Variant report

Variant	esv1822004
Chromosome Location	chr12:123919287-124013451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2426)
CpG islands
(count:2017)
Chromatin interactive
region (count:154)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2426 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124003707-124004059	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123930562-123930871	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:123933034-123933511	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123942421-123942897	K562	blood:	n/a	n/a
5	ARID3A	chr12:123933737-123934269	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:123942478-123942944	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:123928815-123929330	HepG2	liver:	n/a	n/a
8	ATF1	chr12:123939137-123939179	K562	blood:	n/a	n/a
9	ATF2	chr12:123927203-123927661	GM12878	blood:	n/a	n/a
10	ATF2	chr12:123926019-123926706	GM12878	blood:	n/a	n/a
11	ATF2	chr12:123920737-123921522	GM12878	blood:	n/a	n/a
12	ATF2	chr12:123942369-123942910	GM12878	blood:	n/a	n/a
13	ATF2	chr12:123942400-123943194	GM12878	blood:	n/a	n/a
14	ATF3	chr12:123942504-123942902	K562	blood:	n/a	n/a
15	ATF3	chr12:123942419-123943252	A549	lung:	n/a	n/a
16	ATF3	chr12:123942464-123943235	A549	lung:	n/a	n/a
17	BACH1	chr12:123921010-123921615	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:123921364-123921629	K562	blood:	n/a	n/a
19	BATF	chr12:123926085-123926381	GM12878	blood:	n/a	n/a
20	BATF	chr12:123926055-123926404	GM12878	blood:	n/a	n/a
21	BATF	chr12:123968146-123968423	GM12878	blood:	n/a	chr12:123968294-123968305
22	BCL11A	chr12:123921112-123921300	GM12878	blood:	n/a	chr12:123921158-123921171 chr12:123921162-123921175
23	BCL11A	chr12:123920983-123921362	GM12878	blood:	n/a	chr12:123921158-123921171 chr12:123921162-123921175
24	BCL3	chr12:123942551-123943199	A549	lung:	n/a	chr12:123942972-123942981
25	BCL3	chr12:123942334-123943008	A549	lung:	n/a	chr12:123942972-123942981
26	BCL3	chr12:123920964-123921399	GM12878	blood:	n/a	chr12:123921158-123921171 chr12:123921162-123921175
27	BCL3	chr12:123920982-123921527	A549	lung:	n/a	chr12:123921158-123921171 chr12:123921162-123921175
28	BCLAF1	chr12:123926037-123926696	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:123942510-123943016	GM12878	blood:	n/a	chr12:123942972-123942981
30	BCLAF1	chr12:123926056-123926680	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:123942363-123943314	GM12878	blood:	n/a	chr12:123942972-123942981
32	BCLAF1	chr12:123920815-123921485	GM12878	blood:	n/a	chr12:123921158-123921171 chr12:123921162-123921175
33	BHLHE40	chr12:123921001-123921335	A549	lung:	n/a	n/a
34	BHLHE40	chr12:123920683-123921761	K562	blood:	n/a	chr12:123921531-123921547
35	BHLHE40	chr12:123926005-123926747	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:123942574-123942873	HepG2	liver:	n/a	chr12:123942682-123942698
37	BHLHE40	chr12:124003729-124004077	HepG2	liver:	n/a	n/a
38	BHLHE40	chr12:123926530-123926674	HepG2	liver:	n/a	n/a
39	BHLHE40	chr12:123920700-123921610	GM12878	blood:	n/a	chr12:123921531-123921547
40	BHLHE40	chr12:123920693-123921360	HepG2	liver:	n/a	n/a
41	BHLHE40	chr12:123956962-123957454	HepG2	liver:	n/a	n/a
42	BHLHE40	chr12:123942621-123942986	K562	blood:	n/a	chr12:123942682-123942698
43	BHLHE40	chr12:123926393-123926573	K562	blood:	n/a	n/a
44	BHLHE40	chr12:123956984-123957446	HepG2	liver:	n/a	n/a
45	BHLHE40	chr12:123956931-123957373	HepG2	liver:	n/a	n/a
46	BHLHE40	chr12:123920346-123920481	GM12878	blood:	n/a	n/a
47	BRCA1	chr12:123942526-123942959	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr12:123942691-123942849	HepG2	liver:	n/a	n/a
49	BRCA1	chr12:123942714-123942884	GM12878	blood:	n/a	n/a
50	CBX3	chr12:123921395-123921900	K562	blood:	n/a	n/a

(count:2017 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123998115-123998165	HNPCEpiC	eye:	n/a
2	chr12:123942694-123942744	AoSMC	blood vessel:	n/a
3	chr12:123950900-123950950	GM12892	blood:	n/a
4	chr12:123940225-123940275	Caco-2	colon:	n/a
5	chr12:123998115-123998165	HNPCEpiC	eye:	n/a
6	chr12:123942694-123942744	AoSMC	blood vessel:	n/a
7	chr12:123950900-123950950	GM12892	blood:	n/a
8	chr12:123940225-123940275	Caco-2	colon:	n/a
9	chr12:123957410-123957460	NH-A	brain:	n/a
10	chr12:123921479-123921529	AG09319	gingival:	n/a
11	chr12:123920983-123921033	AG04449	skin:	fetal
12	chr12:123943000-123943050	HepG2	liver:	n/a
13	chr12:123957029-123957079	SK-N-SH_RA	brain:	n/a
14	chr12:123950649-123950699	AG04449	skin:	fetal
15	chr12:123942602-123942652	AG04450	lung:	fetal
16	chr12:123943063-123943113	Hepatocyte	liver:	n/a
17	chr12:123943075-123943125	Jurkat	blood:	n/a
18	chr12:123921146-123921196	HRE	kidney:	n/a
19	chr12:123950649-123950699	RPTEC	kidney:	n/a
20	chr12:123950649-123950699	HEEpiC	esophagus:	n/a
21	chr12:123950649-123950699	PFSK-1	brain:	n/a
22	chr12:123998085-123998135	PANC-1	pancreas:	n/a
23	chr12:123942843-123942893	HUVEC	blood vessel:	n/a
24	chr12:123940225-123940275	CMK	blood:	n/a
25	chr12:123921544-123921594	AoSMC	blood vessel:	n/a
26	chr12:123943063-123943113	SK-N-MC	brain:	n/a
27	chr12:123942694-123942744	BJ	skin:	n/a
28	chr12:123943075-123943125	RPTEC	kidney:	n/a
29	chr12:123942843-123942893	AG04450	lung:	fetal
30	chr12:123943000-123943050	NHDF-neo	bronchial:	n/a
31	chr12:123957442-123957492	NT2-D1	testis:	n/a
32	chr12:123950649-123950699	AG09309	skin:	n/a
33	chr12:123943075-123943125	HUVEC	blood vessel:	n/a
34	chr12:123921544-123921594	NT2-D1	testis:	n/a
35	chr12:123921793-123921843	Hela-S3	cervix:	n/a
36	chr12:123957410-123957460	GM19239	blood:	n/a
37	chr12:123942694-123942744	ECC-1	luminal epithelium:	n/a
38	chr12:123942843-123942893	MCF-7	breast:	n/a
39	chr12:123950900-123950950	PrEC	prostate:	n/a
40	chr12:123921146-123921196	PrEC	prostate:	n/a
41	chr12:123921371-123921421	HRPEpiC	eye:	n/a
42	chr12:123942694-123942744	NT2-D1	testis:	n/a
43	chr12:123943000-123943050	GM19239	blood:	n/a
44	chr12:123921793-123921843	K562	blood:	n/a
45	chr12:123943000-123943050	CMK	blood:	n/a
46	chr12:123921371-123921421	HMEC	breast:	n/a
47	chr12:123942694-123942744	HRE	kidney:	n/a
48	chr12:123943075-123943125	NB4	blood:	n/a
49	chr12:123942903-123942953	SAEC	small airway:	n/a
50	chr12:123998115-123998165	HMEC	breast:	n/a

(count:154 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
2	chr12:124002890..124005569-chr12:124009063..124010830,3	MCF-7	breast:
3	chr12:123944753..123946360-chr12:124004239..124006066,2	K562	blood:
4	chr12:123945278..123947489-chr12:123951548..123953733,2	K562	blood:
5	chr12:123950525..123953313-chr12:123954953..123957531,2	MCF-7	breast:
6	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
7	chr12:123933826..123935553-chr12:123942012..123944583,2	K562	blood:
8	chr12:124011402..124015187-chr12:124015616..124018872,7	K562	blood:
9	chr12:123914176..123916754-chr12:123917064..123919737,2	K562	blood:
10	chr12:123956134..123958285-chr12:123959076..123962639,4	K562	blood:
11	chr12:124002890..124005569-chr12:124009063..124010830,3	MCF-7	breast:
12	chr12:123870684..123873491-chr12:123941342..123943069,2	MCF-7	breast:
13	chr12:123865983..123868893-chr12:123989514..123992053,2	K562	blood:
14	chr12:123941485..123944968-chr12:123948238..123952652,6	K562	blood:
15	chr12:123943032..123944561-chr12:124016969..124018583,2	MCF-7	breast:
16	chr12:123936540..123939308-chr12:123941590..123944432,3	MCF-7	breast:
17	chr12:123914176..123916754-chr12:123917064..123919737,4	K562	blood:
18	chr12:124003058..124006753-chr12:124009013..124012498,5	MCF-7	breast:
19	chr12:123873039..123874847-chr12:123921410..123924313,2	MCF-7	breast:
20	chr12:123954067..123957606-chr12:124016638..124019089,3	MCF-7	breast:
21	chr12:123996470..123998238-chr12:124004249..124005999,2	K562	blood:
22	chr12:123996470..123998238-chr12:124004249..124005999,2	K562	blood:
23	chr12:123981817..123985054-chr12:123986830..123990425,4	K562	blood:
24	chr11:62572551..62573135-chr12:123920915..123921735,2	Hela-S3	cervix:
25	chr12:123941593..123946153-chr12:123949136..123952652,8	K562	blood:
26	chr12:123981817..123985054-chr12:123986830..123990425,4	K562	blood:
27	chr12:123944654..123946936-chr12:123957621..123961049,4	K562	blood:
28	chr12:123966913..123969860-chr12:123971684..123973718,2	K562	blood:
29	chr12:123933826..123935553-chr12:123942012..123946066,3	K562	blood:
30	chr12:123941560..123944210-chr12:123946389..123948077,2	K562	blood:
31	chr12:123940979..123946241-chr12:123948686..123953480,7	MCF-7	breast:
32	chr12:123987186..123989370-chr12:124003960..124006021,2	K562	blood:
33	chr12:123988823..123991080-chr12:124013221..124015111,2	K562	blood:
34	chr12:123930108..123930636-chr12:124018341..124019216,2	MCF-7	breast:
35	chr12:123941578..123944282-chr12:124067320..124071098,9	MCF-7	breast:
36	chr12:123919998..123924322-chr12:123941781..123944675,4	K562	blood:
37	chr12:123942949..123945032-chr12:123947880..123951007,3	MCF-7	breast:
38	chr12:123986828..123988513-chr12:123991170..123993036,2	K562	blood:
39	chr12:123971133..123973721-chr12:123974833..123977007,2	K562	blood:
40	chr12:123991748..123994881-chr12:124017334..124019391,3	MCF-7	breast:
41	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
42	chr12:123876498..123879364-chr12:123956037..123958507,2	MCF-7	breast:
43	chr12:123918384..123920794-chr12:123967775..123969543,2	K562	blood:
44	chr12:123919998..123924322-chr12:123941781..123944675,4	K562	blood:
45	chr12:124003899..124005845-chr12:124016075..124018818,3	MCF-7	breast:
46	chr12:123987186..123989370-chr12:124003960..124006021,2	K562	blood:
47	chr12:123945278..123947489-chr12:123951548..123953733,2	K562	blood:
48	chr12:123918432..123921016-chr12:123934034..123936294,2	K562	blood:
49	chr12:123930599..123932648-chr12:123941951..123944505,3	MCF-7	breast:
50	chr12:124009480..124011316-chr12:124016803..124019267,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-2	chr12:123997031-123997972	NONHSAT031595
2	lnc-RILPL2-1	chr12:123926064-123926399	NONHSAT031590
3	lnc-SNRNP35-1	chr12:123942674-123942763	NONHSAT031593
4	lnc-SNRNP35-1	chr12:123942651-123942763	NR_104103
5	lnc-SNRNP35-1	chr12:123955639-123956909	NR_104103
6	lnc-SNRNP35-2	chr12:123994929-123996488	NONHSAT031595
7	lnc-SNRNP35-1	chr12:123948976-123949446	NONHSAT031593

No data

Variant related genes	Relation type
RILPL2	TF binding region
RILPL1	TF binding region
SNRNP35	TF binding region
ENSG00000270445	TF binding region
RILPL2	CpG island
RILPL1	CpG island
SNRNP35	CpG island
ENSG00000270445	CpG island
ENSG00000139644	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000266655	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000270445	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000111364	chromatin interactions

Extended variants
information (count: 3906 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3906 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115426700	chr12:123919299-123919300	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183097854	chr12:123919337-123919338	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111904930	chr12:123919363-123919364	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114761671	chr12:123919375-123919376	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146114069	chr12:123919392-123919393	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs140118916	chr12:123919435-123919436	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564200308	chr12:123919448-123919449	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532220806	chr12:123919524-123919525	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs28847276	chr12:123919565-123919566	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs60453874	chr12:123919566-123919567	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540906455	chr12:123919578-123919579	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372006584	chr12:123919579-123919580	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550339553	chr12:123919625-123919626	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569166062	chr12:123919642-123919643	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs187731772	chr12:123919671-123919672	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs1706475	chr12:123919687-123919688	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs566345862	chr12:123919717-123919718	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs554479178	chr12:123919726-123919727	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs73412214	chr12:123919760-123919761	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558724058	chr12:123919779-123919780	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs73412215	chr12:123919831-123919832	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs367615678	chr12:123919850-123919851	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs193258174	chr12:123919890-123919891	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs143837384	chr12:123919898-123919899	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs542182130	chr12:123919906-123919907	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs554399304	chr12:123919927-123919928	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs146390929	chr12:123919938-123919939	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545782894	chr12:123919968-123919969	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs1707730	chr12:123919969-123919970	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs1707731	chr12:123920075-123920076	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs543862986	chr12:123920102-123920103	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs562561543	chr12:123920106-123920107	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs571653760	chr12:123920175-123920176	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs55882821	chr12:123920234-123920235	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560462693	chr12:123920249-123920250	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs370463881	chr12:123920265-123920266	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs552183053	chr12:123920278-123920279	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs570597481	chr12:123920298-123920299	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs537957551	chr12:123920307-123920308	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs117928527	chr12:123920316-123920317	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs376376024	chr12:123920417-123920418	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs551227638	chr12:123920453-123920454	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs115776345	chr12:123920495-123920496	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs567880863	chr12:123920530-123920531	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs182565305	chr12:123920553-123920554	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs554209862	chr12:123920556-123920557	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs572382870	chr12:123920575-123920576	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs369004339	chr12:123920631-123920632	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs143936364	chr12:123920737-123920738	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs557745120	chr12:123920751-123920752	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3799 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123891200-123920400	Weak transcription	Psoas Muscle	Psoas
2	chr12:123891600-123919800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:123891600-123920000	Weak transcription	Small Intestine	intestine
4	chr12:123892200-123920200	Weak transcription	NH-A	brain
5	chr12:123892800-123920000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:123894000-123920600	Weak transcription	HSMMtube	muscle
7	chr12:123894800-123920000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:123895200-123920000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:123895200-123920000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:123895200-123920000	Weak transcription	HSMM	muscle
11	chr12:123895200-123920000	Weak transcription	NHLF	lung
12	chr12:123895200-123920200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:123895200-123920200	Weak transcription	A549	lung
14	chr12:123907600-123920000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:123907600-123920200	Weak transcription	Placenta	Placenta
16	chr12:123907600-123920200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:123907800-123920000	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:123908600-123920200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:123912200-123919800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:123912200-123920200	Weak transcription	Esophagus	oesophagus
21	chr12:123912200-123920200	Weak transcription	Stomach Mucosa	stomach
22	chr12:123912200-123920400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:123912800-123920000	Weak transcription	Liver	Liver
24	chr12:123913400-123920000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:123913600-123920000	Weak transcription	Brain Substantia Nigra	brain
26	chr12:123913600-123920000	Weak transcription	Fetal Lung	lung
27	chr12:123913800-123919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:123915400-123919800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:123915800-123920000	Weak transcription	Ovary	ovary
30	chr12:123916200-123920000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:123916200-123920200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr12:123916600-123919800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:123916800-123920000	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:123916800-123920000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:123916800-123920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:123916800-123921000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:123916800-123921000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr12:123917000-123919800	Enhancers	Dnd41	blood
39	chr12:123917000-123920000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:123917000-123920000	Enhancers	Fetal Thymus	thymus
41	chr12:123917200-123919400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr12:123917200-123919800	Enhancers	Brain Anterior Caudate	brain
43	chr12:123917200-123920200	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:123917200-123920400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:123917200-123920800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr12:123917200-123921800	Active TSS	Aorta	Aorta
47	chr12:123917400-123919400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:123917400-123919800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:123917400-123919800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:123917400-123919800	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links