Variant report

Variant	nsv898590
Chromosome Location	chr12:1740171-1757743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:1751637-1752006	K562	blood:	n/a	chr12:1751802-1751811
2	BHLHE40	chr12:1755884-1756045	K562	blood:	n/a	n/a
3	BHLHE40	chr12:1743775-1744107	K562	blood:	n/a	n/a
4	CEBPB	chr12:1754325-1754418	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:1754187-1754499	IMR90	lung:	n/a	n/a
6	CREB1	chr12:1743762-1744107	A549	lung:	n/a	n/a
7	CTCF	chr12:1740480-1740630	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr12:1743843-1744122	T-47D	breast:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1744090-1744098 chr12:1743944-1743965
9	CTCF	chr12:1743860-1744010	HRE	kidney:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
10	CTCF	chr12:1743779-1744059	SK-N-SH_RA	brain:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
11	CTCF	chr12:1740560-1740710	AG04450	lung:	n/a	n/a
12	CTCF	chr12:1754020-1754170	AG04449	skin:	n/a	n/a
13	CTCF	chr12:1754100-1754250	HAc	cerebellar:	n/a	n/a
14	CTCF	chr12:1743803-1744095	Spleen_OC	spleen:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
15	CTCF	chr12:1743612-1743705	Spleen_OC	spleen:	n/a	chr12:1743682-1743689
16	CTCF	chr12:1740460-1740610	HFF	foreskin:	n/a	n/a
17	CTCF	chr12:1743823-1744071	GM10248	blood:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
18	CTCF	chr12:1754037-1754203	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:1743840-1743990	HCT-116	colon:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
20	CTCF	chr12:1743828-1744077	Hela-S3	cervix:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
21	CTCF	chr12:1740500-1740650	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr12:1743880-1744030	AG09319	gingival:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
23	CTCF	chr12:1743880-1744030	GM12871	blood:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
24	CTCF	chr12:1743880-1744030	BE2_C	brain:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
25	CTCF	chr12:1743900-1744050	GM12864	blood:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
26	CTCF	chr12:1743748-1744191	T-47D	breast:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1744090-1744098 chr12:1743944-1743965
27	CTCF	chr12:1740480-1740630	HMF	breast:	n/a	n/a
28	CTCF	chr12:1743820-1743970	WI-38	lung:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
29	CTCF	chr12:1743756-1744097	ECC-1	luminal epithelium:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
30	CTCF	chr12:1743880-1744030	HRPEpiC	eye:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
31	CTCF	chr12:1740460-1740610	BE2_C	brain:	n/a	n/a
32	CTCF	chr12:1743880-1744030	GM12873	blood:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
33	CTCF	chr12:1743627-1743695	GM12892	blood:	n/a	chr12:1743682-1743689
34	CTCF	chr12:1743812-1744144	H1-hESC	embryonic stem cell:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1744090-1744098 chr12:1743944-1743965
35	CTCF	chr12:1743800-1744097	A549	lung:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
36	CTCF	chr12:1743807-1744096	Medullo	brain:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
37	CTCF	chr12:1743649-1743709	GM19239	blood:	n/a	chr12:1743682-1743689
38	CTCF	chr12:1743595-1744146	IMR90	lung:	n/a	chr12:1743945-1743958 chr12:1743682-1743689 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1744090-1744098 chr12:1743944-1743965
39	CTCF	chr12:1743880-1744030	AG10803	skin:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
40	CTCF	chr12:1743834-1744077	HepG2	liver:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
41	CTCF	chr12:1743880-1744030	RPTEC	kidney:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
42	CTCF	chr12:1743880-1744030	GM12875	blood:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
43	CTCF	chr12:1743860-1744010	WERI-Rb-1	eye:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
44	CTCF	chr12:1743840-1743990	GM12871	blood:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
45	CTCF	chr12:1743860-1744010	AG04450	lung:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
46	CTCF	chr12:1743726-1744127	H1-hESC	embryonic stem cell:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1744090-1744098 chr12:1743944-1743965
47	CTCF	chr12:1743753-1744105	HepG2	liver:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1744090-1744098 chr12:1743944-1743965
48	CTCF	chr12:1743880-1744030	GM12878	blood:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965
49	CTCF	chr12:1740540-1740690	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr12:1743860-1744010	HA-sp	spinal cord:	n/a	chr12:1743945-1743958 chr12:1743943-1743959 chr12:1743942-1743960 chr12:1743947-1743957 chr12:1743944-1743965

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1755162-1755212	AG04449	skin:	fetal
2	chr12:1755068-1755118	GM12891	blood:	n/a
3	chr12:1753440-1753490	GM19239	blood:	n/a
4	chr12:1755162-1755212	AG04449	skin:	fetal
5	chr12:1755068-1755118	GM12891	blood:	n/a
6	chr12:1753440-1753490	GM19239	blood:	n/a
7	chr12:1753440-1753490	BJ	skin:	n/a
8	chr12:1751897-1751947	GM12892	blood:	n/a
9	chr12:1747274-1747324	CMK	blood:	n/a
10	chr12:1747274-1747324	GM12892	blood:	n/a
11	chr12:1754156-1754206	GM12891	blood:	n/a
12	chr12:1749013-1749063	AG09319	gingival:	n/a
13	chr12:1742536-1742586	CMK	blood:	n/a
14	chr12:1756074-1756124	IMR90	lung:	fetal
15	chr12:1754980-1755030	GM12892	blood:	n/a
16	chr12:1753866-1753916	PFSK-1	brain:	n/a
17	chr12:1744957-1745007	U87	brain:	n/a
18	chr12:1751357-1751407	HCF	heart:	n/a
19	chr12:1749013-1749063	SKMC	muscle:	n/a
20	chr12:1753440-1753490	A549	lung:	n/a
21	chr12:1753866-1753916	GM12878	blood:	n/a
22	chr12:1755143-1755193	ECC-1	luminal epithelium:	n/a
23	chr12:1747274-1747324	HNPCEpiC	eye:	n/a
24	chr12:1749013-1749063	AG04449	skin:	fetal
25	chr12:1751897-1751947	AG09309	skin:	n/a
26	chr12:1753440-1753490	HRCEpiC	kidney:	n/a
27	chr12:1749159-1749209	HUVEC	blood vessel:	n/a
28	chr12:1752104-1752154	Caco-2	colon:	n/a
29	chr12:1755143-1755193	MCF-7	breast:	n/a
30	chr12:1755322-1755372	BE2_C	brain:	n/a
31	chr12:1753440-1753490	AG10803	skin:	n/a
32	chr12:1755322-1755372	GM06990	blood:	n/a
33	chr12:1751357-1751407	SK-N-SH	brain:	n/a
34	chr12:1742536-1742586	MCF-7	breast:	n/a
35	chr12:1756074-1756124	HUVEC	blood vessel:	n/a
36	chr12:1753440-1753490	BE2_C	brain:	n/a
37	chr12:1751357-1751407	LNCaP	prostate:	n/a
38	chr12:1742536-1742586	A549	lung:	n/a
39	chr12:1755162-1755212	HEK293	kidney:	embryo
40	chr12:1756074-1756124	SK-N-MC	brain:	n/a
41	chr12:1751357-1751407	CMK	blood:	n/a
42	chr12:1744957-1745007	HepG2	liver:	n/a
43	chr12:1753866-1753916	RPTEC	kidney:	n/a
44	chr12:1749159-1749209	HNPCEpiC	eye:	n/a
45	chr12:1756074-1756124	LNCaP	prostate:	n/a
46	chr12:1741869-1741919	HRPEpiC	eye:	n/a
47	chr12:1754156-1754206	HRPEpiC	eye:	n/a
48	chr12:1742536-1742586	HAEpiC	amniotic membrane:	n/a
49	chr12:1741869-1741919	LNCaP	prostate:	n/a
50	chr12:1755162-1755212	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1702532..1704125-chr12:1743682..1745521,2	MCF-7	breast:
2	chr12:1740865..1743090-chr12:1799142..1801895,2	MCF-7	breast:
3	chr12:1757039..1760239-chr12:1798333..1801306,3	K562	blood:
4	chr12:1745580..1751053-chr12:1752530..1755627,4	K562	blood:
5	chr12:1746984..1749673-chr12:1753092..1755153,3	K562	blood:
6	chr12:1743461..1744388-chr12:1899911..1900896,5	MCF-7	breast:
7	chr12:1738204..1740242-chr12:1742756..1744844,2	K562	blood:
8	chr12:1741431..1743986-chr12:1900425..1902270,2	MCF-7	breast:
9	chr12:1743763..1744406-chr12:1900002..1900715,3	K562	blood:
10	chr12:1750618..1752879-chr12:1756177..1759095,2	K562	blood:
11	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
12	chr12:1739520..1741562-chr12:1747330..1749766,2	MCF-7	breast:
13	chr12:1748743..1751681-chr12:1751691..1754305,2	MCF-7	breast:
14	chr12:1751543..1753813-chr12:1771357..1773090,2	K562	blood:
15	chr12:1741511..1744510-chr12:1943871..1945697,2	K562	blood:
16	chr12:1743835..1744388-chr12:2048853..2049575,2	K562	blood:
17	chr12:1738742..1741489-chr12:1743344..1746284,2	K562	blood:
18	chr12:1750618..1752879-chr12:1756177..1759095,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADIPOR2-3	chr12:1740464-1740489	NONHSAT025406

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	WNT5B	hsa-miR-185-5p	chr12:1755591-1755614
2	WNT5B	hsa-miR-185-5p	chr12:1755626-1755648

Variant related genes	Relation type
WNT5B	TF binding region
WNT5B	CpG island
ENSG00000111186	chromatin interactions
ENSG00000006831	chromatin interactions
ENSG00000171823	chromatin interactions

Extended variants
information (count: 791 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10773971	chr12:1740171-1740172	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566453272	chr12:1740199-1740200	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572419552	chr12:1740239-1740240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148482491	chr12:1740252-1740253	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548965029	chr12:1740303-1740304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185081796	chr12:1740318-1740319	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs115742896	chr12:1740331-1740332	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189961845	chr12:1740338-1740339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74061309	chr12:1740344-1740345	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539922026	chr12:1740354-1740355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558012195	chr12:1740364-1740365	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573297346	chr12:1740367-1740368	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142647858	chr12:1740391-1740392	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555820458	chr12:1740427-1740428	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs193190650	chr12:1740480-1740481	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs572051701	chr12:1740483-1740484	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs544544625	chr12:1740503-1740504	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374460599	chr12:1740515-1740516	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368704549	chr12:1740520-1740521	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs202057231	chr12:1740530-1740531	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141073347	chr12:1740544-1740545	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146907057	chr12:1740548-1740549	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs61732672	chr12:1740554-1740555	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371639630	chr12:1740622-1740623	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527400679	chr12:1740626-1740627	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538394081	chr12:1740696-1740697	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548533954	chr12:1740733-1740734	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529765958	chr12:1740765-1740766	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150566274	chr12:1740766-1740767	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140477942	chr12:1740770-1740771	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557700552	chr12:1740798-1740799	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144336314	chr12:1740803-1740804	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558334040	chr12:1740824-1740825	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566825136	chr12:1740866-1740867	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549537167	chr12:1740887-1740888	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs386759476	chr12:1740895-1740896	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145529710	chr12:1740898-1740899	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184835832	chr12:1740912-1740913	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114956382	chr12:1741023-1741024	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373683945	chr12:1741025-1741026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575208022	chr12:1741033-1741034	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11061882	chr12:1741039-1741040	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	rs562428256	chr12:1741056-1741057	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556453143	chr12:1741068-1741069	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577871574	chr12:1741081-1741082	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544847164	chr12:1741166-1741167	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75928068	chr12:1741227-1741228	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374073030	chr12:1741249-1741250	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527378762	chr12:1741262-1741263	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11061883	chr12:1741282-1741283	Enhancers Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1733000-1744000	Weak transcription	K562	blood
2	chr12:1737600-1740600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:1737800-1740400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr12:1737800-1740600	Enhancers	Spleen	Spleen
5	chr12:1737800-1740800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:1737800-1740800	Bivalent Enhancer	Fetal Lung	lung
7	chr12:1738200-1740200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr12:1738200-1740400	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:1738400-1740400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:1738400-1740600	Enhancers	Lung	lung
11	chr12:1738600-1740200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:1738600-1740200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:1738600-1740200	Flanking Active TSS	Right Ventricle	heart
14	chr12:1738600-1740400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr12:1738600-1740600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:1738600-1740600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:1738600-1740600	Active TSS	Colon Smooth Muscle	Colon
18	chr12:1738600-1740800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr12:1738800-1740200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:1738800-1740400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
21	chr12:1738800-1740400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:1738800-1740400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:1738800-1740600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr12:1738800-1740600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:1738800-1740600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr12:1739000-1740200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:1739000-1740200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
28	chr12:1739000-1740400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:1739000-1740400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr12:1739000-1740600	Bivalent/Poised TSS	Thymus	Thymus
31	chr12:1739200-1740200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:1739400-1740200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:1739400-1740600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr12:1739600-1740200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:1739600-1740200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr12:1739600-1740200	Flanking Active TSS	GM12878-XiMat	blood
37	chr12:1739600-1740200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr12:1739600-1740400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
39	chr12:1739600-1740600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr12:1739600-1740600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:1739600-1740600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:1739600-1740600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr12:1739600-1740600	Bivalent Enhancer	HepG2	liver
44	chr12:1739800-1740200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr12:1739800-1740200	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr12:1739800-1740200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr12:1739800-1740200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:1739800-1740200	Flanking Active TSS	Fetal Brain Female	brain
49	chr12:1739800-1740200	Enhancers	NHLF	lung
50	chr12:1739800-1740400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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