Variant report

Variant	esv1834423
Chromosome Location	chr12:1703324-1727170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1395)
CpG islands
(count:1099)
Chromatin interactive
region (count:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1395 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:1714437-1714697	K562	blood:	n/a	n/a
2	ARID3A	chr12:1715227-1715537	K562	blood:	n/a	n/a
3	ARID3A	chr12:1719211-1719760	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:1715130-1715653	HepG2	liver:	n/a	n/a
5	ATF1	chr12:1714389-1715496	K562	blood:	n/a	n/a
6	ATF1	chr12:1717415-1717648	K562	blood:	n/a	n/a
7	ATF2	chr12:1714250-1714753	GM12878	blood:	n/a	n/a
8	ATF2	chr12:1725570-1726002	GM12878	blood:	n/a	n/a
9	ATF2	chr12:1715097-1715739	GM12878	blood:	n/a	n/a
10	ATF2	chr12:1715034-1715651	GM12878	blood:	n/a	n/a
11	ATF3	chr12:1703921-1704219	HepG2	liver:	n/a	n/a
12	ATF3	chr12:1715220-1715524	K562	blood:	n/a	n/a
13	ATF3	chr12:1703691-1704192	A549	lung:	n/a	n/a
14	ATF3	chr12:1723017-1723410	GM12878	blood:	n/a	n/a
15	ATF3	chr12:1723077-1723312	K562	blood:	n/a	n/a
16	ATF3	chr12:1703905-1704290	A549	lung:	n/a	n/a
17	ATF3	chr12:1703979-1704186	K562	blood:	n/a	n/a
18	ATF3	chr12:1723103-1723240	GM12878	blood:	n/a	n/a
19	BACH1	chr12:1704012-1704359	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr12:1714376-1715193	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr12:1715090-1715737	GM12878	blood:	n/a	n/a
22	BATF	chr12:1715111-1715749	GM12878	blood:	n/a	n/a
23	BATF	chr12:1714240-1714564	GM12878	blood:	n/a	n/a
24	BCL3	chr12:1702811-1703565	GM12878	blood:	n/a	chr12:1703277-1703290 chr12:1703246-1703255 chr12:1703251-1703264
25	BCL3	chr12:1714170-1715032	A549	lung:	n/a	n/a
26	BCLAF1	chr12:1715002-1715678	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:1714995-1715824	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:1714215-1714643	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:1714187-1714707	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:1703961-1704290	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:1703326-1703559	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:1711914-1712114	K562	blood:	n/a	n/a
33	BHLHE40	chr12:1725668-1725943	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:1710667-1711219	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:1703615-1704317	K562	blood:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
36	BHLHE40	chr12:1714414-1715588	K562	blood:	n/a	n/a
37	BHLHE40	chr12:1703132-1704326	GM12878	blood:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703282-1703298 chr12:1703887-1703903
38	BHLHE40	chr12:1714268-1715762	GM12878	blood:	n/a	n/a
39	BHLHE40	chr12:1704800-1704877	GM12878	blood:	n/a	n/a
40	BHLHE40	chr12:1710663-1711085	K562	blood:	n/a	n/a
41	BHLHE40	chr12:1703673-1704161	A549	lung:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
42	BHLHE40	chr12:1723546-1723834	K562	blood:	n/a	n/a
43	BHLHE40	chr12:1703541-1704274	HepG2	liver:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
44	BRCA1	chr12:1714933-1715170	GM12878	blood:	n/a	n/a
45	BRCA1	chr12:1703950-1704220	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr12:1704098-1704155	HepG2	liver:	n/a	n/a
47	BRCA1	chr12:1704097-1704217	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr12:1715018-1715713	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr12:1714403-1714742	Hela-S3	cervix:	n/a	n/a
50	CBX3	chr12:1704032-1704330	K562	blood:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1704065-1704115	HMEC	breast:	n/a
2	chr12:1704065-1704115	HMEC	breast:	n/a
3	chr12:1721081-1721131	AG04449	skin:	fetal
4	chr12:1704156-1704206	HNPCEpiC	eye:	n/a
5	chr12:1726292-1726342	HCT-116	colon:	n/a
6	chr12:1704080-1704130	GM19239	blood:	n/a
7	chr12:1704080-1704130	HCT-116	colon:	n/a
8	chr12:1704156-1704206	SK-N-MC	brain:	n/a
9	chr12:1703704-1703754	GM06990	blood:	n/a
10	chr12:1726059-1726109	HRE	kidney:	n/a
11	chr12:1726076-1726126	HNPCEpiC	eye:	n/a
12	chr12:1726059-1726109	GM12891	blood:	n/a
13	chr12:1726059-1726109	HNPCEpiC	eye:	n/a
14	chr12:1725867-1725917	SAEC	small airway:	n/a
15	chr12:1704156-1704206	PrEC	prostate:	n/a
16	chr12:1708017-1708067	PFSK-1	brain:	n/a
17	chr12:1724930-1724980	NHBE	bronchial:	n/a
18	chr12:1726028-1726078	PrEC	prostate:	n/a
19	chr12:1708017-1708067	ovcar-3	ovarian:	n/a
20	chr12:1724930-1724980	HIPEpiC	eye:	n/a
21	chr12:1726076-1726126	A549	lung:	n/a
22	chr12:1726028-1726078	HL-60	blood:	n/a
23	chr12:1714918-1714968	NH-A	brain:	n/a
24	chr12:1721081-1721131	Caco-2	colon:	n/a
25	chr12:1704080-1704130	ovcar-3	ovarian:	n/a
26	chr12:1725867-1725917	K562	blood:	n/a
27	chr12:1714918-1714968	PrEC	prostate:	n/a
28	chr12:1704263-1704313	HCT-116	colon:	n/a
29	chr12:1726292-1726342	BJ	skin:	n/a
30	chr12:1714918-1714968	Hela-S3	cervix:	n/a
31	chr12:1726059-1726109	CMK	blood:	n/a
32	chr12:1725867-1725917	BJ	skin:	n/a
33	chr12:1724930-1724980	PFSK-1	brain:	n/a
34	chr12:1714918-1714968	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:1708017-1708067	NH-A	brain:	n/a
36	chr12:1726076-1726126	HCPEpiC	choroid plexus:	n/a
37	chr12:1726076-1726126	PANC-1	pancreas:	n/a
38	chr12:1725036-1725086	HCT-116	colon:	n/a
39	chr12:1726292-1726342	NHDF-neo	bronchial:	n/a
40	chr12:1725788-1725838	HEK293	kidney:	embryo
41	chr12:1726076-1726126	BE2_C	brain:	n/a
42	chr12:1725036-1725086	HL-60	blood:	n/a
43	chr12:1704080-1704130	HEK293	kidney:	embryo
44	chr12:1714851-1714901	HEK293	kidney:	embryo
45	chr12:1708017-1708067	MCF-7	breast:	n/a
46	chr12:1704263-1704313	HEK293	kidney:	embryo
47	chr12:1726292-1726342	HRCEpiC	kidney:	n/a
48	chr12:1725036-1725086	HepG2	liver:	n/a
49	chr12:1704080-1704130	SK-N-SH_RA	brain:	n/a
50	chr12:1721081-1721131	MCF-7	breast:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1712100..1714681-chr12:1718212..1720734,2	K562	blood:
2	chr12:1714212..1714749-chr12:1739345..1739945,2	MCF-7	breast:
3	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:
4	chr12:1699199..1708657-chr12:1712989..1721243,16	MCF-7	breast:
5	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:
6	chr11:64645557..64646112-chr12:1703529..1704108,2	Hela-S3	cervix:
7	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
8	chr12:1713456..1716341-chr12:1722548..1725972,3	K562	blood:
9	chr12:1699624..1701795-chr12:1708636..1710140,2	MCF-7	breast:
10	chr12:1057714..1059446-chr12:1702277..1704204,2	MCF-7	breast:
11	chr12:1727058..1729024-chr12:1769642..1771498,2	K562	blood:
12	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
13	chr12:1713815..1716830-chr12:1725934..1728212,3	K562	blood:
14	chr12:1703509..1704108-chr6:26216519..26217376,2	Hela-S3	cervix:
15	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
16	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
17	chr12:1716647..1719370-chr12:1719904..1722064,2	MCF-7	breast:
18	chr12:1224466..1226137-chr12:1702484..1704918,2	MCF-7	breast:
19	chr12:1703426..1704364-chr18:71959175..71959778,2	NB4	blood:
20	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
21	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
22	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
23	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
24	chr12:1716647..1719370-chr12:1719904..1722064,2	MCF-7	breast:
25	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:
26	chr12:1712100..1714681-chr12:1718212..1720734,2	K562	blood:
27	chr12:547432..549780-chr12:1702241..1704941,2	MCF-7	breast:
28	chr12:1699689..1706116-chr12:1713524..1719359,13	MCF-7	breast:
29	chr12:679647..681193-chr12:1713500..1715289,2	K562	blood:
30	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
31	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:
32	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADIPOR2-3	chr12:1725826-1726309	NONHSAT025406

No data

Variant related genes	Relation type
FBXL14	TF binding region
WNT5B	TF binding region
FBXL14	CpG island
WNT5B	CpG island
ENSG00000187990	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000111186	chromatin interactions
ENSG00000171823	chromatin interactions
ENSG00000002016	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000166347	chromatin interactions

Extended variants
information (count: 1014 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1014 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575015772	chr12:1703365-1703366	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs549524374	chr12:1703415-1703416	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs542229686	chr12:1703642-1703643	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs563501829	chr12:1703740-1703741	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs530958233	chr12:1703803-1703804	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs552142815	chr12:1703819-1703820	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs564418172	chr12:1703854-1703855	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs369427877	chr12:1703976-1703977	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs557829617	chr12:1703978-1703979	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs11061871	chr12:1703987-1703988	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs546414735	chr12:1703989-1703990	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs147317714	chr12:1704121-1704122	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs547385949	chr12:1704130-1704131	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs535142537	chr12:1704151-1704152	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs201519750	chr12:1704160-1704161	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs67277632	chr12:1704165-1704166	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs35749496	chr12:1704168-1704169	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs113961848	chr12:1704182-1704183	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs75067473	chr12:1704183-1704184	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs558977671	chr12:1704218-1704219	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs577658537	chr12:1704286-1704287	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs535209170	chr12:1704352-1704353	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs73605897	chr12:1704355-1704356	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140952186	chr12:1704365-1704366	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs540232037	chr12:1704380-1704381	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs533998416	chr12:1704383-1704384	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs35710824	chr12:1704395-1704396	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563808932	chr12:1704428-1704429	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs575510829	chr12:1704444-1704445	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs546222182	chr12:1704461-1704462	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs144809459	chr12:1704467-1704468	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs528401928	chr12:1704468-1704469	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs150862549	chr12:1704532-1704533	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs73605899	chr12:1704543-1704544	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139305657	chr12:1704582-1704583	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs183854068	chr12:1704624-1704625	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs568974237	chr12:1704628-1704629	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs532787779	chr12:1704669-1704670	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs73605900	chr12:1704672-1704673	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563117198	chr12:1704724-1704725	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs375644606	chr12:1704750-1704751	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs188177788	chr12:1704841-1704842	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs570507627	chr12:1704906-1704907	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs537975992	chr12:1704940-1704941	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs535302952	chr12:1704961-1704962	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs13377750	chr12:1705006-1705007	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182013502	chr12:1705065-1705066	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs536058439	chr12:1705090-1705091	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557168002	chr12:1705102-1705103	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs527490134	chr12:1705126-1705127	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	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:1469 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1700600-1704400	Active TSS	Brain Germinal Matrix	brain
2	chr12:1700800-1704600	Active TSS	Ovary	ovary
3	chr12:1701000-1704800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:1701200-1704200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:1701800-1704400	Active TSS	Fetal Kidney	kidney
6	chr12:1701800-1704600	Active TSS	Small Intestine	intestine
7	chr12:1702400-1704200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:1702400-1704400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:1702400-1705000	Active TSS	Right Atrium	heart
10	chr12:1702600-1704200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:1702600-1704200	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr12:1702600-1704200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:1702600-1704200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:1702600-1704200	Active TSS	Rectal Smooth Muscle	rectum
15	chr12:1702600-1704400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:1702600-1704400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:1702600-1704400	Active TSS	Primary T cells from cord blood	blood
18	chr12:1702600-1704400	Active TSS	Brain Angular Gyrus	brain
19	chr12:1702600-1704400	Active TSS	Brain Anterior Caudate	brain
20	chr12:1702600-1704400	Active TSS	Colon Smooth Muscle	Colon
21	chr12:1702600-1704400	Active TSS	Lung	lung
22	chr12:1702600-1704400	Active TSS	Thymus	Thymus
23	chr12:1702600-1704400	Active TSS	A549	lung
24	chr12:1702600-1704600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:1702600-1704600	Active TSS	Fetal Brain Female	brain
26	chr12:1702600-1704600	Active TSS	Left Ventricle	heart
27	chr12:1702600-1704600	Active TSS	Psoas Muscle	Psoas
28	chr12:1702600-1705200	Active TSS	Aorta	Aorta
29	chr12:1702800-1704200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:1702800-1704200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:1702800-1704200	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr12:1702800-1704200	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:1702800-1704200	Active TSS	Fetal Intestine Large	intestine
34	chr12:1702800-1704200	Active TSS	Hela-S3	cervix
35	chr12:1702800-1704200	Active TSS	HSMM	muscle
36	chr12:1702800-1704200	Active TSS	NHLF	lung
37	chr12:1702800-1704400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:1702800-1704400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:1702800-1704400	Active TSS	Fetal Intestine Small	intestine
40	chr12:1702800-1704400	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr12:1702800-1704600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:1702800-1704600	Active TSS	Brain Substantia Nigra	brain
43	chr12:1702800-1704600	Active TSS	Esophagus	oesophagus
44	chr12:1702800-1705000	Active TSS	HSMMtube	muscle
45	chr12:1703000-1704000	Active TSS	Primary T cells fromperipheralblood	blood
46	chr12:1703000-1704000	Active TSS	Primary hematopoietic stem cells	blood
47	chr12:1703000-1704000	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr12:1703000-1704200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:1703000-1704200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:1703000-1704200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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