Variant report

Variant	nsv1035796
Chromosome Location	chr12:50634342-50784312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2457)
CpG islands
(count:1160)
Chromatin interactive
region (count:145)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2457 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:50646403-50646788	K562	blood:	n/a	n/a
2	ARID3A	chr12:50698125-50698325	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:50655554-50655743	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:50653261-50654044	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:50635535-50635818	K562	blood:	n/a	chr12:50635679-50635695
6	ARID3A	chr12:50640208-50641378	K562	blood:	n/a	n/a
7	ARID3A	chr12:50664974-50665789	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:50643352-50643915	K562	blood:	n/a	n/a
9	ARID3A	chr12:50677290-50677642	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:50647832-50648495	K562	blood:	n/a	n/a
11	ARID3A	chr12:50784138-50784465	HepG2	liver:	n/a	n/a
12	ARID3A	chr12:50759671-50759672	K562	blood:	n/a	n/a
13	ARID3A	chr12:50760317-50760322	K562	blood:	n/a	n/a
14	ARID3A	chr12:50655493-50655717	K562	blood:	n/a	n/a
15	ARID3A	chr12:50643381-50643916	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:50636537-50636907	K562	blood:	n/a	n/a
17	ARID3A	chr12:50781712-50782043	HepG2	liver:	n/a	n/a
18	ARID3A	chr12:50665575-50665920	K562	blood:	n/a	n/a
19	ARID3A	chr12:50711203-50711252	K562	blood:	n/a	n/a
20	ARID3A	chr12:50678100-50678431	K562	blood:	n/a	n/a
21	ARID3A	chr12:50719928-50720204	HepG2	liver:	n/a	n/a
22	ARID3A	chr12:50703770-50704270	K562	blood:	n/a	n/a
23	ARID3A	chr12:50781816-50781917	K562	blood:	n/a	n/a
24	ARID3A	chr12:50634769-50635745	HepG2	liver:	n/a	chr12:50635679-50635695
25	ARID3A	chr12:50758915-50759307	K562	blood:	n/a	n/a
26	ATF1	chr12:50640871-50641345	K562	blood:	n/a	n/a
27	ATF1	chr12:50665875-50665961	K562	blood:	n/a	n/a
28	ATF2	chr12:50647716-50648319	GM12878	blood:	n/a	n/a
29	ATF2	chr12:50639926-50640349	GM12878	blood:	n/a	n/a
30	ATF2	chr12:50640816-50641218	GM12878	blood:	n/a	n/a
31	ATF2	chr12:50640766-50641334	GM12878	blood:	n/a	n/a
32	ATF3	chr12:50697954-50698384	A549	lung:	n/a	n/a
33	ATF3	chr12:50648248-50648561	K562	blood:	n/a	n/a
34	ATF3	chr12:50640902-50641377	K562	blood:	n/a	n/a
35	ATF3	chr12:50735830-50736079	K562	blood:	n/a	n/a
36	ATF3	chr12:50697501-50697803	K562	blood:	n/a	n/a
37	ATF3	chr12:50697973-50698387	K562	blood:	n/a	n/a
38	ATF3	chr12:50640848-50641406	HCT-116	colon:	n/a	n/a
39	BACH1	chr12:50676890-50677711	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr12:50636304-50636346	K562	blood:	n/a	n/a
41	BACH1	chr12:50640995-50641209	K562	blood:	n/a	n/a
42	BATF	chr12:50648678-50648938	GM12878	blood:	n/a	n/a
43	BATF	chr12:50640000-50640269	GM12878	blood:	n/a	n/a
44	BATF	chr12:50645434-50645778	GM12878	blood:	n/a	chr12:50645621-50645632
45	BATF	chr12:50640820-50641216	GM12878	blood:	n/a	chr12:50641012-50641023
46	BATF	chr12:50645537-50645768	GM12878	blood:	n/a	chr12:50645621-50645632
47	BATF	chr12:50640697-50641304	GM12878	blood:	n/a	chr12:50641012-50641023
48	BCL11A	chr12:50640816-50641240	GM12878	blood:	n/a	n/a
49	BCL11A	chr12:50640864-50641169	GM12878	blood:	n/a	n/a
50	BCL3	chr12:50634599-50635516	A549	lung:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50677255-50677305	AG04450	lung:	fetal
2	chr12:50677255-50677305	AG04450	lung:	fetal
3	chr12:50678441-50678491	NHDF-neo	bronchial:	n/a
4	chr12:50720139-50720189	HRCEpiC	kidney:	n/a
5	chr12:50676705-50676755	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:50641260-50641310	HEK293	kidney:	embryo
7	chr12:50707901-50707951	BE2_C	brain:	n/a
8	chr12:50781534-50781584	PFSK-1	brain:	n/a
9	chr12:50677498-50677548	NHDF-neo	bronchial:	n/a
10	chr12:50678441-50678491	Caco-2	colon:	n/a
11	chr12:50707901-50707951	PrEC	prostate:	n/a
12	chr12:50677228-50677278	NHDF-neo	bronchial:	n/a
13	chr12:50677460-50677510	AG09309	skin:	n/a
14	chr12:50677024-50677074	HEK293	kidney:	embryo
15	chr12:50697206-50697256	PrEC	prostate:	n/a
16	chr12:50677524-50677574	AG09319	gingival:	n/a
17	chr12:50748524-50748574	AG09309	skin:	n/a
18	chr12:50677255-50677305	ProgFib	skin:	n/a
19	chr12:50678441-50678491	HEK293	kidney:	embryo
20	chr12:50677524-50677574	H1-hESC	embryonic stem cell:	embryo
21	chr12:50677281-50677331	U87	brain:	n/a
22	chr12:50677585-50677635	AG09309	skin:	n/a
23	chr12:50677524-50677574	PrEC	prostate:	n/a
24	chr12:50677281-50677331	HRCEpiC	kidney:	n/a
25	chr12:50677524-50677574	NHDF-neo	bronchial:	n/a
26	chr12:50677281-50677331	AG09309	skin:	n/a
27	chr12:50677255-50677305	HRCEpiC	kidney:	n/a
28	chr12:50641260-50641310	NHDF-neo	bronchial:	n/a
29	chr12:50677255-50677305	HEEpiC	esophagus:	n/a
30	chr12:50677279-50677329	Hela-S3	cervix:	n/a
31	chr12:50677460-50677510	NHBE	bronchial:	n/a
32	chr12:50677279-50677329	GM06990	blood:	n/a
33	chr12:50676705-50676755	HCF	heart:	n/a
34	chr12:50677585-50677635	NT2-D1	testis:	n/a
35	chr12:50748524-50748574	SK-N-MC	brain:	n/a
36	chr12:50748524-50748574	SK-N-SH_RA	brain:	n/a
37	chr12:50641260-50641310	SKMC	muscle:	n/a
38	chr12:50748524-50748574	PFSK-1	brain:	n/a
39	chr12:50676705-50676755	BJ	skin:	n/a
40	chr12:50677279-50677329	HIPEpiC	eye:	n/a
41	chr12:50720139-50720189	T-47D	breast:	n/a
42	chr12:50677228-50677278	PFSK-1	brain:	n/a
43	chr12:50781534-50781584	NT2-D1	testis:	n/a
44	chr12:50781534-50781584	MCF10A-Er-Src	breast:	n/a
45	chr12:50748524-50748574	HRE	kidney:	n/a
46	chr12:50697206-50697256	AG10803	skin:	n/a
47	chr12:50707901-50707951	HCPEpiC	choroid plexus:	n/a
48	chr12:50677498-50677548	MCF-7	breast:	n/a
49	chr12:50677585-50677635	HIPEpiC	eye:	n/a
50	chr12:50678007-50678057	Jurkat	blood:	n/a

(count:145 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:50676871..50679447-chr12:50689934..50691681,2	K562	blood:
2	chr12:50627929..50630533-chr12:50633901..50636403,3	K562	blood:
3	chr12:50655572..50656141-chr12:50708116..50708728,2	K562	blood:
4	chr12:50652124..50654779-chr12:50674069..50676173,2	K562	blood:
5	chr12:50698148..50700297-chr12:50709647..50711373,2	K562	blood:
6	chr12:50690840..50693744-chr12:50695723..50697728,2	MCF-7	breast:
7	chr12:50671138..50674964-chr12:50675618..50679032,4	MCF-7	breast:
8	chr12:50595788..50598306-chr12:50680106..50682510,2	MCF-7	breast:
9	chr12:50672633..50674582-chr12:50677546..50679089,2	K562	blood:
10	chr12:50736936..50740764-chr12:50743981..50747917,3	MCF-7	breast:
11	chr12:50572151..50574598-chr12:50653111..50654640,2	K562	blood:
12	chr12:50666860..50670693-chr12:50671075..50676885,6	K562	blood:
13	chr12:50741875..50743821-chr12:50794623..50797001,2	K562	blood:
14	chr12:50720749..50723312-chr12:50808337..50810670,2	MCF-7	breast:
15	chr12:50640226..50641774-chr12:50672197..50675094,2	K562	blood:
16	chr12:50652124..50654779-chr12:50674069..50676173,2	K562	blood:
17	chr12:50665699..50667278-chr12:50677248..50679307,2	K562	blood:
18	chr12:50639528..50641829-chr12:51035745..51038139,2	K562	blood:
19	chr12:50632639..50636668-chr12:50645758..50650000,5	MCF-7	breast:
20	chr12:50640439..50643617-chr12:50665797..50668650,3	K562	blood:
21	chr12:50648277..50650889-chr12:50658628..50661390,2	K562	blood:
22	chr12:50742978..50745322-chr12:50762860..50765654,2	K562	blood:
23	chr12:50675775..50678031-chr6:7107823..7110608,2	MCF-7	breast:
24	chr12:50676754..50678948-chr12:132378610..132380632,2	MCF-7	breast:
25	chr12:50575888..50577120-chr12:50707949..50709207,6	MCF-7	breast:
26	chr12:50646516..50648440-chr12:50668582..50670960,3	K562	blood:
27	chr12:50665266..50667345-chr12:50675939..50678435,2	K562	blood:
28	chr12:50677314..50678874-chr12:50691066..50693797,2	MCF-7	breast:
29	chr12:50575652..50577783-chr12:50703565..50705515,2	MCF-7	breast:
30	chr12:50628147..50630548-chr12:50634316..50636856,2	MCF-7	breast:
31	chr12:50643519..50647012-chr12:50649051..50651928,4	K562	blood:
32	chr12:50696931..50700086-chr12:50702573..50705613,3	K562	blood:
33	chr12:50676871..50679447-chr12:50689934..50691681,2	K562	blood:
34	chr12:50593299..50595374-chr12:50677220..50679734,2	K562	blood:
35	chr12:50642588..50645238-chr12:50660155..50661980,2	K562	blood:
36	chr12:50642230..50643787-chr12:50648428..50651289,2	MCF-7	breast:
37	chr12:50526029..50526560-chr12:50708191..50708705,2	K562	blood:
38	chr12:50656964..50659369-chr12:50666129..50668846,2	K562	blood:
39	chr12:50698148..50700297-chr12:50709647..50711373,2	K562	blood:
40	chr12:50677350..50679861-chr12:50792501..50795030,2	K562	blood:
41	chr12:50645859..50648042-chr12:50675883..50677407,2	MCF-7	breast:
42	chr12:50575985..50576844-chr12:50708187..50709140,4	K562	blood:
43	chr12:50661921..50664462-chr12:50666966..50669585,2	K562	blood:
44	chr12:50677251..50678858-chr12:50683227..50685287,2	MCF-7	breast:
45	chr12:50646771..50649988-chr12:50653700..50656765,4	K562	blood:
46	chr12:50594314..50595947-chr12:50667482..50670246,2	MCF-7	breast:
47	chr12:50665714..50669767-chr12:50671688..50676181,4	MCF-7	breast:
48	chr12:50687536..50689810-chr12:50690498..50693200,2	MCF-7	breast:
49	chr12:50633064..50634689-chr12:50675697..50677824,2	MCF-7	breast:
50	chr12:50768661..50771049-chr12:50788858..50791669,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP4-6	chr12:50677451-50679182	NONHSAT028190
2	lnc-LARP4-5	chr12:50681628-50681700	NONHSAT028192
3	lnc-LARP4-4	chr12:50686542-50687288	NONHSAT028195
4	lnc-LARP4-3	chr12:50691304-50692152	NONHSAT028197
5	lnc-LARP4-2	chr12:50759435-50759869	NONHSAT028208
6	lnc-LARP4-5	chr12:50679362-50680433	NONHSAT028192

No data

Variant related genes	Relation type
ENSG00000196082	TF binding region
RNU6-1093P	TF binding region
LIMA1	TF binding region
ENSG00000203427	TF binding region
ENSG00000203431	TF binding region
ENSG00000203423	TF binding region
LARP4	TF binding region
ENSG00000203430	TF binding region
ENSG00000269529	TF binding region
ENSG00000203432	TF binding region
ENSG00000203428	TF binding region
ENSG00000203425	TF binding region
ENSG00000203424	TF binding region
ENSG00000203422	TF binding region
ENSG00000244266	TF binding region
ENSG00000203426	TF binding region
ENSG00000203433	TF binding region
ENSG00000203421	TF binding region
FAM186A	TF binding region
ENSG00000196082	CpG island
RNU6-1093P	CpG island
LIMA1	CpG island
ENSG00000203427	CpG island
ENSG00000203431	CpG island
ENSG00000203423	CpG island
LARP4	CpG island
ENSG00000203430	CpG island
ENSG00000269529	CpG island
ENSG00000203432	CpG island
ENSG00000203428	CpG island
ENSG00000203425	CpG island
ENSG00000203424	CpG island
ENSG00000203422	CpG island
ENSG00000244266	CpG island
ENSG00000203426	CpG island
ENSG00000203433	CpG island
ENSG00000203421	CpG island
FAM186A	CpG island
ENSG00000066117	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000272368	chromatin interactions
ENSG00000124782	chromatin interactions
ENSG00000203430	chromatin interactions
ENSG00000203431	chromatin interactions
ENSG00000257531	chromatin interactions
ENSG00000185958	chromatin interactions
ENSG00000203422	chromatin interactions
ENSG00000203427	chromatin interactions
ENSG00000203423	chromatin interactions
ENSG00000203432	chromatin interactions
ENSG00000178449	chromatin interactions
ENSG00000160746	chromatin interactions
ENSG00000269529	chromatin interactions
ENSG00000203433	chromatin interactions
ENSG00000244266	chromatin interactions
ENSG00000161813	chromatin interactions
ENSG00000212496	chromatin interactions
ENSG00000050405	chromatin interactions
ENSG00000257256	chromatin interactions
ENSG00000203426	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000143382	chromatin interactions
ENSG00000011198	chromatin interactions
ENSG00000225996	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000221604	chromatin interactions
ENSG00000177169	chromatin interactions
ENSG00000213995	chromatin interactions

Extended variants
information (count: 4970 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:4970 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544209136	chr12:50634363-50634364	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs562056424	chr12:50634391-50634392	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs186004117	chr12:50634394-50634395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs376233709	chr12:50634465-50634466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs371585085	chr12:50634483-50634484	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs113557044	chr12:50634535-50634536	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs146190393	chr12:50634554-50634555	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs559891424	chr12:50634606-50634607	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373681520	chr12:50634620-50634621	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs528456686	chr12:50634648-50634649	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs545374775	chr12:50634649-50634650	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs566924361	chr12:50634673-50634674	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs531211030	chr12:50634681-50634682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs139165607	chr12:50634710-50634711	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs377644670	chr12:50634759-50634760	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551022513	chr12:50634775-50634776	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113476121	chr12:50634777-50634778	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144316228	chr12:50634850-50634851	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546241065	chr12:50634884-50634885	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566237248	chr12:50634933-50634934	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538394168	chr12:50634954-50634955	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190566408	chr12:50634955-50634956	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544869552	chr12:50635013-50635014	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539238328	chr12:50635033-50635034	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554592223	chr12:50635037-50635038	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574640654	chr12:50635074-50635075	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114977901	chr12:50635087-50635088	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113310986	chr12:50635191-50635192	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183562499	chr12:50635253-50635254	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs79581456	chr12:50635267-50635268	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560447031	chr12:50635430-50635431	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565264995	chr12:50635508-50635509	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187197909	chr12:50635511-50635512	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544862241	chr12:50635526-50635527	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373855532	chr12:50635558-50635559	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372035173	chr12:50635584-50635585	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12307511	chr12:50635596-50635597	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35108697	chr12:50635633-50635634	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561248146	chr12:50635636-50635637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192133493	chr12:50635712-50635713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs145502727	chr12:50635715-50635716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577308413	chr12:50635748-50635749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558945219	chr12:50635752-50635753	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs546788352	chr12:50635759-50635760	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368013581	chr12:50635780-50635781	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566753986	chr12:50635815-50635816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146734180	chr12:50635818-50635819	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532219162	chr12:50635840-50635841	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs182741400	chr12:50635900-50635901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568809882	chr12:50635902-50635903	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2520 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50599800-50635800	Weak transcription	Pancreas	Pancrea
2	chr12:50616400-50636200	Weak transcription	Left Ventricle	heart
3	chr12:50616800-50636400	Weak transcription	Aorta	Aorta
4	chr12:50616800-50641600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:50616800-50651800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:50617000-50636200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:50617400-50634600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:50617400-50635600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:50617600-50638400	Weak transcription	Brain Germinal Matrix	brain
10	chr12:50618600-50634400	Weak transcription	HSMM	muscle
11	chr12:50618600-50636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:50618600-50638400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:50618600-50640000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:50623000-50638400	Weak transcription	Fetal Brain Female	brain
15	chr12:50625400-50634400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:50627200-50635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:50627600-50634400	Weak transcription	Fetal Lung	lung
18	chr12:50627600-50644600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:50628800-50634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:50628800-50635200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:50628800-50640800	Weak transcription	Esophagus	oesophagus
22	chr12:50629000-50636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:50631400-50638200	Weak transcription	Fetal Stomach	stomach
24	chr12:50631400-50638400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:50633000-50634600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:50633000-50634800	Genic enhancers	Fetal Intestine Large	intestine
27	chr12:50633200-50634600	Enhancers	Right Atrium	heart
28	chr12:50633200-50634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:50633200-50634800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr12:50633200-50636400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:50633200-50636800	Enhancers	Small Intestine	intestine
32	chr12:50633200-50637600	Enhancers	Fetal Muscle Leg	muscle
33	chr12:50633200-50651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:50633400-50635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:50633400-50637200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:50633400-50638400	Enhancers	Placenta	Placenta
37	chr12:50633600-50643400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:50633800-50634600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:50633800-50635600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:50633800-50636200	Enhancers	NHDF-Ad	bronchial
41	chr12:50634000-50634400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:50634000-50634400	Enhancers	A549	lung
43	chr12:50634000-50634400	Genic enhancers	HSMMtube	muscle
44	chr12:50634000-50634600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:50634000-50634600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
46	chr12:50634000-50634600	Enhancers	Spleen	Spleen
47	chr12:50634000-50634800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:50634000-50634800	Genic enhancers	Colonic Mucosa	Colon
49	chr12:50634000-50634800	Enhancers	Gastric	stomach
50	chr12:50634000-50634800	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links