Variant report

Variant	nsv899075
Chromosome Location	chr12:50594947-50835060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4759)
CpG islands
(count:2995)
Chromatin interactive
region (count:280)
LncRNA
region (count:12)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:4759 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:50711203-50711252	K562	blood:	n/a	n/a
2	ARID3A	chr12:50760317-50760322	K562	blood:	n/a	n/a
3	ARID3A	chr12:50634191-50634242	K562	blood:	n/a	n/a
4	ARID3A	chr12:50655554-50655743	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:50647832-50648495	K562	blood:	n/a	n/a
6	ARID3A	chr12:50634769-50635745	HepG2	liver:	n/a	chr12:50635679-50635695
7	ARID3A	chr12:50719928-50720204	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:50781712-50782043	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:50796701-50796789	K562	blood:	n/a	n/a
10	ARID3A	chr12:50698125-50698325	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:50759671-50759672	K562	blood:	n/a	n/a
12	ARID3A	chr12:50703770-50704270	K562	blood:	n/a	n/a
13	ARID3A	chr12:50758915-50759307	K562	blood:	n/a	n/a
14	ARID3A	chr12:50664974-50665789	HepG2	liver:	n/a	n/a
15	ARID3A	chr12:50790005-50790738	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:50793878-50794885	HepG2	liver:	n/a	n/a
17	ARID3A	chr12:50614160-50614401	K562	blood:	n/a	n/a
18	ARID3A	chr12:50794120-50794800	K562	blood:	n/a	n/a
19	ARID3A	chr12:50789021-50789046	HepG2	liver:	n/a	n/a
20	ARID3A	chr12:50636537-50636907	K562	blood:	n/a	n/a
21	ARID3A	chr12:50804946-50804977	K562	blood:	n/a	n/a
22	ARID3A	chr12:50614898-50615955	K562	blood:	n/a	n/a
23	ARID3A	chr12:50677290-50677642	HepG2	liver:	n/a	n/a
24	ARID3A	chr12:50678100-50678431	K562	blood:	n/a	n/a
25	ARID3A	chr12:50640208-50641378	K562	blood:	n/a	n/a
26	ARID3A	chr12:50665575-50665920	K562	blood:	n/a	n/a
27	ARID3A	chr12:50798847-50799198	HepG2	liver:	n/a	n/a
28	ARID3A	chr12:50781816-50781917	K562	blood:	n/a	n/a
29	ARID3A	chr12:50646403-50646788	K562	blood:	n/a	n/a
30	ARID3A	chr12:50616177-50616814	K562	blood:	n/a	n/a
31	ARID3A	chr12:50796058-50797279	HepG2	liver:	n/a	n/a
32	ARID3A	chr12:50643381-50643916	HepG2	liver:	n/a	n/a
33	ARID3A	chr12:50655493-50655717	K562	blood:	n/a	n/a
34	ARID3A	chr12:50643352-50643915	K562	blood:	n/a	n/a
35	ARID3A	chr12:50635535-50635818	K562	blood:	n/a	chr12:50635679-50635695
36	ARID3A	chr12:50788445-50788751	HepG2	liver:	n/a	n/a
37	ARID3A	chr12:50784138-50784465	HepG2	liver:	n/a	n/a
38	ARID3A	chr12:50653261-50654044	HepG2	liver:	n/a	n/a
39	ATF1	chr12:50794326-50794813	K562	blood:	n/a	n/a
40	ATF1	chr12:50665875-50665961	K562	blood:	n/a	n/a
41	ATF1	chr12:50600080-50600233	K562	blood:	n/a	n/a
42	ATF1	chr12:50615126-50615547	K562	blood:	n/a	n/a
43	ATF1	chr12:50614184-50614649	K562	blood:	n/a	n/a
44	ATF1	chr12:50628242-50628461	K562	blood:	n/a	n/a
45	ATF1	chr12:50640871-50641345	K562	blood:	n/a	n/a
46	ATF2	chr12:50616052-50616542	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr12:50647716-50648319	GM12878	blood:	n/a	n/a
48	ATF2	chr12:50639926-50640349	GM12878	blood:	n/a	n/a
49	ATF2	chr12:50794178-50794831	GM12878	blood:	n/a	n/a
50	ATF2	chr12:50614052-50614642	GM12878	blood:	n/a	n/a

(count:2995 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50678441-50678491	HUVEC	blood vessel:	n/a
2	chr12:50819810-50819860	AG09309	skin:	n/a
3	chr12:50793981-50794031	SAEC	small airway:	n/a
4	chr12:50665774-50665824	SAEC	small airway:	n/a
5	chr12:50677255-50677305	LNCaP	prostate:	n/a
6	chr12:50676705-50676755	GM12878	blood:	n/a
7	chr12:50678441-50678491	HUVEC	blood vessel:	n/a
8	chr12:50819810-50819860	AG09309	skin:	n/a
9	chr12:50793981-50794031	SAEC	small airway:	n/a
10	chr12:50665774-50665824	SAEC	small airway:	n/a
11	chr12:50677255-50677305	LNCaP	prostate:	n/a
12	chr12:50676705-50676755	GM12878	blood:	n/a
13	chr12:50794758-50794808	GM12892	blood:	n/a
14	chr12:50665774-50665824	MCF10A-Er-Src	breast:	n/a
15	chr12:50794550-50794600	Caco-2	colon:	n/a
16	chr12:50781534-50781584	HCT-116	colon:	n/a
17	chr12:50794758-50794808	AG09319	gingival:	n/a
18	chr12:50596347-50596397	PANC-1	pancreas:	n/a
19	chr12:50677228-50677278	HL-60	blood:	n/a
20	chr12:50629483-50629533	AG04450	lung:	fetal
21	chr12:50616434-50616484	HNPCEpiC	eye:	n/a
22	chr12:50596347-50596397	HRPEpiC	eye:	n/a
23	chr12:50798901-50798951	RPTEC	kidney:	n/a
24	chr12:50629483-50629533	BJ	skin:	n/a
25	chr12:50676705-50676755	SK-N-SH_RA	brain:	n/a
26	chr12:50697206-50697256	GM06990	blood:	n/a
27	chr12:50790423-50790473	SK-N-SH	brain:	n/a
28	chr12:50677460-50677510	HCPEpiC	choroid plexus:	n/a
29	chr12:50677585-50677635	HEK293	kidney:	embryo
30	chr12:50697206-50697256	MCF10A-Er-Src	breast:	n/a
31	chr12:50641260-50641310	SKMC	muscle:	n/a
32	chr12:50794975-50795025	AG09309	skin:	n/a
33	chr12:50794552-50794602	HEK293	kidney:	embryo
34	chr12:50794494-50794544	HCT-116	colon:	n/a
35	chr12:50677498-50677548	Caco-2	colon:	n/a
36	chr12:50677228-50677278	SK-N-MC	brain:	n/a
37	chr12:50795330-50795380	BE2_C	brain:	n/a
38	chr12:50677524-50677574	NHBE	bronchial:	n/a
39	chr12:50677585-50677635	PrEC	prostate:	n/a
40	chr12:50616562-50616612	LNCaP	prostate:	n/a
41	chr12:50617546-50617596	NHBE	bronchial:	n/a
42	chr12:50616434-50616484	HRPEpiC	eye:	n/a
43	chr12:50677498-50677548	GM12892	blood:	n/a
44	chr12:50677255-50677305	HCT-116	colon:	n/a
45	chr12:50790101-50790151	U87	brain:	n/a
46	chr12:50665774-50665824	HCM	heart:	n/a
47	chr12:50628607-50628657	SK-N-SH_RA	brain:	n/a
48	chr12:50641260-50641310	SK-N-MC	brain:	n/a
49	chr12:50617546-50617596	HMEC	breast:	n/a
50	chr12:50819810-50819860	MCF-7	breast:	n/a

(count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr12:50655699..50657734-chr12:50662717..50665167,2	K562	blood:
2	chr12:50640174..50642638-chr12:50649828..50651758,2	K562	blood:
3	chr12:50653700..50656235-chr12:50667803..50669605,2	K562	blood:
4	chr12:50793597..50795392-chr12:51156771..51159161,2	MCF-7	breast:
5	chr12:50645859..50648042-chr12:50675883..50677407,2	MCF-7	breast:
6	chr12:50805941..50808167-chr12:50815030..50816604,2	K562	blood:
7	chr12:50589265..50591468-chr12:50615588..50617139,2	K562	blood:
8	chr12:50677315..50677913-chr13:111267621..111268237,2	Hela-S3	cervix:
9	chr12:50614841..50617436-chr12:50793138..50796219,5	K562	blood:
10	chr12:50639732..50644182-chr12:50792343..50795361,4	K562	blood:
11	chr12:50639206..50641232-chr12:50793861..50796336,2	K562	blood:
12	chr12:50674740..50676452-chr12:50685513..50688302,2	K562	blood:
13	chr12:50639732..50644182-chr12:50792343..50795361,4	K562	blood:
14	chr12:50672480..50674370-chr12:50677048..50678907,2	MCF-7	breast:
15	chr12:50601076..50602931-chr12:50613575..50615759,2	K562	blood:
16	chr12:50640461..50643085-chr12:51288426..51290474,2	K562	blood:
17	chr12:50611193..50613806-chr12:50616062..50618522,3	K562	blood:
18	chr12:50640439..50643617-chr12:50665797..50668650,3	K562	blood:
19	chr12:50794531..50796202-chr12:50898772..50900284,2	MCF-7	breast:
20	chr12:50794445..50796158-chr12:50811858..50814422,2	K562	blood:
21	chr12:50663031..50666710-chr12:50669970..50672461,3	K562	blood:
22	chr12:50665266..50667345-chr12:50675939..50678435,2	K562	blood:
23	chr12:50598358..50601280-chr12:50607490..50609263,3	K562	blood:
24	chr12:50583595..50586516-chr12:50609733..50613018,3	K562	blood:
25	chr12:50608910..50611527-chr12:50617767..50619869,3	MCF-7	breast:
26	chr12:50758172..50761780-chr12:50791230..50796188,4	K562	blood:
27	chr12:50655178..50655736-chr12:50708248..50709081,3	MCF-7	breast:
28	chr12:50811830..50813752-chr12:50815622..50818052,2	K562	blood:
29	chr12:50675775..50678031-chr6:7107823..7110608,2	MCF-7	breast:
30	chr12:50672633..50674582-chr12:50677546..50679089,2	K562	blood:
31	chr12:50619714..50622106-chr12:50639705..50642592,2	K562	blood:
32	chr12:50597580..50599392-chr12:50600768..50603210,2	MCF-7	breast:
33	chr12:50662962..50664861-chr12:50666966..50669357,2	K562	blood:
34	chr12:50643519..50647012-chr12:50649051..50651928,4	K562	blood:
35	chr12:50592640..50596172-chr12:50599889..50601939,3	MCF-7	breast:
36	chr12:50649207..50652092-chr12:50665658..50667171,2	K562	blood:
37	chr12:50639875..50642771-chr12:50676421..50679231,2	K562	blood:
38	chr12:50601699..50604230-chr12:50607719..50610299,2	K562	blood:
39	chr12:50834513..50836638-chr12:50838122..50840024,2	K562	blood:
40	chr12:50642588..50645238-chr12:50660155..50661980,2	K562	blood:
41	chr12:50628987..50631090-chr12:50634050..50636155,2	MCF-7	breast:
42	chr12:50677350..50679861-chr12:50792501..50795030,2	K562	blood:
43	chr12:50640930..50642693-chr12:50644330..50646038,2	MCF-7	breast:
44	chr12:50612057..50616588-chr12:50616735..50619930,4	MCF-7	breast:
45	chr12:50795879..50797710-chr12:50805639..50808628,2	MCF-7	breast:
46	chr12:50505161..50506751-chr12:50614441..50616699,2	K562	blood:
47	chr12:50667436..50669686-chr12:50677547..50679539,3	K562	blood:
48	chr12:50615133..50616010-chr14:50319346..50319864,2	Hela-S3	cervix:
49	chr12:50690840..50693744-chr12:50695723..50697728,2	MCF-7	breast:
50	chr12:50597958..50602856-chr12:50604694..50610518,6	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf62-1	chr12:50613387-50613516	ENSG00000257256.1
2	lnc-LARP4-6	chr12:50677451-50679182	NONHSAT028190
3	lnc-C12orf62-1	chr12:50623573-50623767	ENSG00000257256.1
4	lnc-LARP4-5	chr12:50681628-50681700	NONHSAT028192
5	lnc-LARP4-5	chr12:50679362-50680433	NONHSAT028192
6	lnc-LARP4-4	chr12:50686542-50687288	NONHSAT028195
7	lnc-CERS5-2	chr12:50611984-50612126	NONHSAT028185
8	lnc-CERS5-2	chr12:50613600-50614726	ENSG00000251589
9	lnc-CERS5-2	chr12:50611445-50611655	NONHSAT028185
10	lnc-LARP4-2	chr12:50759435-50759869	NONHSAT028208
11	lnc-LARP4-3	chr12:50691304-50692152	NONHSAT028197
12	lnc-CERS5-2	chr12:50611708-50613166	ENSG00000251589

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1293	chr12:50627965-50627986	MIMAT0005883

No data

Variant related genes	Relation type
RNU6-1093P	TF binding region
LIMA1	TF binding region
ENSG00000203431	TF binding region
ENSG00000203423	TF binding region
LARP4	TF binding region
ENSG00000257531	TF binding region
ENSG00000203430	TF binding region
MIR1293	TF binding region
ENSG00000203424	TF binding region
ENSG00000244266	TF binding region
ENSG00000203421	TF binding region
FAM186A	TF binding region
ENSG00000196082	TF binding region
ENSG00000203427	TF binding region
ENSG00000269529	TF binding region
ENSG00000203432	TF binding region
ENSG00000203428	TF binding region
ENSG00000257256	TF binding region
ENSG00000203425	TF binding region
ENSG00000203422	TF binding region
ENSG00000203426	TF binding region
ENSG00000203433	TF binding region
RNU6-1093P	CpG island
LIMA1	CpG island
ENSG00000203431	CpG island
ENSG00000203423	CpG island
LARP4	CpG island
ENSG00000257531	CpG island
ENSG00000203430	CpG island
MIR1293	CpG island
ENSG00000203424	CpG island
ENSG00000244266	CpG island
ENSG00000203421	CpG island
FAM186A	CpG island
ENSG00000196082	CpG island
ENSG00000203427	CpG island
ENSG00000269529	CpG island
ENSG00000203432	CpG island
ENSG00000203428	CpG island
ENSG00000257256	CpG island
ENSG00000203425	CpG island
ENSG00000203422	CpG island
ENSG00000203426	CpG island
ENSG00000203433	CpG island
ENSG00000269529	chromatin interactions
ENSG00000203423	chromatin interactions
ENSG00000066084	chromatin interactions
ENSG00000244266	chromatin interactions
ENSG00000203425	chromatin interactions
ENSG00000139624	chromatin interactions
ENSG00000185958	chromatin interactions
ENSG00000164187	chromatin interactions
ENSG00000203431	chromatin interactions
ENSG00000198589	chromatin interactions
ENSG00000177169	chromatin interactions
ENSG00000221604	chromatin interactions
ENSG00000178449	chromatin interactions
ENSG00000115520	chromatin interactions
ENSG00000203430	chromatin interactions
ENSG00000165525	chromatin interactions
ENSG00000167588	chromatin interactions
ENSG00000196082	chromatin interactions
ENSG00000203422	chromatin interactions
ENSG00000257531	chromatin interactions
ENSG00000177138	chromatin interactions
ENSG00000103966	chromatin interactions
ENSG00000143382	chromatin interactions
ENSG00000257298	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000175793	chromatin interactions
ENSG00000145604	chromatin interactions
ENSG00000161800	chromatin interactions
ENSG00000203433	chromatin interactions
ENSG00000212496	chromatin interactions
ENSG00000124782	chromatin interactions
ENSG00000160746	chromatin interactions
ENSG00000203427	chromatin interactions
ENSG00000272368	chromatin interactions
ENSG00000225996	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000011198	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000050405	chromatin interactions
ENSG00000203432	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000203428	chromatin interactions
ENSG00000257256	chromatin interactions
ENSG00000161813	chromatin interactions
ENSG00000066117	chromatin interactions
ENSG00000166803	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000213995	chromatin interactions
ENSG00000203426	chromatin interactions
ENSG00000138134	chromatin interactions
GCN1L1	Mature miRNA region
TMEM30A	miRNA target sites
PHTF2	miRNA target sites

Extended variants
information (count: 8282 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:8282 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4459386	chr12:50594947-50594948	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188074598	chr12:50595030-50595031	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs117100489	chr12:50595054-50595055	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs528366977	chr12:50595093-50595094	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs545705541	chr12:50595103-50595104	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs565610170	chr12:50595139-50595140	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs531103908	chr12:50595163-50595164	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370871793	chr12:50595183-50595184	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs567156496	chr12:50595189-50595190	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs560784317	chr12:50595221-50595222	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs144765960	chr12:50595242-50595243	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs11169315	chr12:50595263-50595264	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs566457356	chr12:50595345-50595346	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs148561571	chr12:50595402-50595403	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs552039522	chr12:50595417-50595418	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs34909891	chr12:50595429-50595430	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs568842327	chr12:50595444-50595445	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs10219559	chr12:50595445-50595446	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs554765076	chr12:50595539-50595540	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs567613767	chr12:50595540-50595541	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs180715586	chr12:50595595-50595596	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs10219472	chr12:50595596-50595597	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs142662129	chr12:50595619-50595620	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs551686340	chr12:50595637-50595638	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs564561586	chr12:50595667-50595668	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs185552801	chr12:50595676-50595677	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs144595688	chr12:50595715-50595716	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544435415	chr12:50595731-50595732	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs147882329	chr12:50595777-50595778	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs58553787	chr12:50595890-50595891	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189656372	chr12:50595903-50595904	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540312011	chr12:50595904-50595905	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs538328988	chr12:50595991-50595992	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs559851556	chr12:50595993-50595994	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs181745365	chr12:50595994-50595995	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs551780186	chr12:50595996-50595997	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs140479909	chr12:50596027-50596028	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs531511449	chr12:50596058-50596059	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs186928904	chr12:50596141-50596142	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs563405137	chr12:50596171-50596172	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs113986199	chr12:50596172-50596173	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs374408586	chr12:50596187-50596188	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs571527670	chr12:50596231-50596232	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs573358803	chr12:50596270-50596271	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs533401205	chr12:50596286-50596287	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs534229508	chr12:50596363-50596364	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs192121904	chr12:50596395-50596396	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs17124532	chr12:50596399-50596400	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138557880	chr12:50596487-50596488	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs112924901	chr12:50596498-50596499	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	19363497	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5737 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50571800-50595800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
6	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
9	chr12:50576600-50595000	Weak transcription	A549	lung
10	chr12:50579600-50598000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:50580400-50595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:50581800-50601000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:50582000-50596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:50582400-50596200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:50582400-50598200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:50582400-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:50582600-50597000	Weak transcription	Fetal Brain Female	brain
18	chr12:50582600-50598000	Weak transcription	Psoas Muscle	Psoas
19	chr12:50582600-50598200	Weak transcription	Pancreas	Pancrea
20	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
23	chr12:50583400-50598200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:50583400-50600800	Strong transcription	Adipose Nuclei	Adipose
25	chr12:50584600-50595400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:50584600-50595800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:50584600-50596400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:50586000-50599600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:50586800-50595800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:50586800-50596000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:50587000-50597600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:50587800-50599800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:50588000-50599800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:50588400-50595000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:50588400-50599600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:50588400-50600200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:50588400-50600600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:50588400-50600600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:50588800-50595000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:50589000-50595800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:50589400-50595200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:50589400-50599800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:50589400-50599800	Strong transcription	GM12878-XiMat	blood
46	chr12:50589400-50600800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:50589600-50598400	Genic enhancers	Osteobl	bone
48	chr12:50590600-50595200	Strong transcription	Fetal Stomach	stomach
49	chr12:50590600-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:50590600-50600200	Strong transcription	Fetal Thymus	thymus

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