Variant report

Variant	nsv899575
Chromosome Location	chr12:123326374-123360151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1624)
CpG islands
(count:2443)
Chromatin interactive
region (count:74)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1624 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123351032-123351227	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123350353-123350550	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:123347476-123347522	HepG2	liver:	n/a	n/a
4	ATF1	chr12:123341887-123342008	K562	blood:	n/a	n/a
5	ATF2	chr12:123356194-123356888	GM12878	blood:	n/a	n/a
6	ATF2	chr12:123360019-123360861	GM12878	blood:	n/a	n/a
7	ATF2	chr12:123356483-123357095	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:123356505-123357148	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:123360126-123360795	GM12878	blood:	n/a	n/a
10	BACH1	chr12:123344894-123345025	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:123356432-123357245	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr12:123360130-123360752	GM12878	blood:	n/a	n/a
13	BATF	chr12:123356270-123356667	GM12878	blood:	n/a	n/a
14	BATF	chr12:123356254-123356541	GM12878	blood:	n/a	n/a
15	BCL11A	chr12:123356652-123356998	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr12:123356651-123356982	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr12:123348698-123349233	A549	lung:	n/a	chr12:123349145-123349154
18	BCL3	chr12:123350196-123351056	K562	blood:	n/a	n/a
19	BCL3	chr12:123346572-123346919	A549	lung:	n/a	n/a
20	BCL3	chr12:123348905-123350084	K562	blood:	n/a	chr12:123349145-123349154
21	BCL3	chr12:123360146-123360804	GM12878	blood:	n/a	n/a
22	BCL3	chr12:123350303-123350545	K562	blood:	n/a	n/a
23	BCLAF1	chr12:123344704-123345219	GM12878	blood:	n/a	chr12:123344765-123344778
24	BCLAF1	chr12:123356243-123356913	GM12878	blood:	n/a	n/a
25	BCLAF1	chr12:123360094-123360868	GM12878	blood:	n/a	n/a
26	BHLHE40	chr12:123350249-123350568	A549	lung:	n/a	n/a
27	BHLHE40	chr12:123350239-123350606	GM12878	blood:	n/a	n/a
28	BHLHE40	chr12:123350181-123351237	HepG2	liver:	n/a	n/a
29	BHLHE40	chr12:123352225-123352412	K562	blood:	n/a	n/a
30	BHLHE40	chr12:123350217-123350619	K562	blood:	n/a	n/a
31	BHLHE40	chr12:123342038-123342133	HepG2	liver:	n/a	n/a
32	BHLHE40	chr12:123344854-123345046	K562	blood:	n/a	n/a
33	BHLHE40	chr12:123344895-123345100	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:123350263-123350572	HepG2	liver:	n/a	n/a
35	BHLHE40	chr12:123350210-123350566	HepG2	liver:	n/a	n/a
36	BRCA1	chr12:123344922-123344970	HepG2	liver:	n/a	n/a
37	CBX3	chr12:123344804-123345154	K562	blood:	n/a	n/a
38	CCNT2	chr12:123349947-123350687	K562	blood:	n/a	n/a
39	CCNT2	chr12:123352299-123352499	K562	blood:	n/a	n/a
40	CCNT2	chr12:123344744-123345084	K562	blood:	n/a	n/a
41	CCNT2	chr12:123349138-123349346	K562	blood:	n/a	n/a
42	CEBPB	chr12:123344674-123345108	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr12:123326135-123326405	IMR90	lung:	n/a	n/a
44	CEBPB	chr12:123326175-123326691	HepG2	liver:	n/a	n/a
45	CEBPB	chr12:123356598-123356867	IMR90	lung:	n/a	n/a
46	CEBPB	chr12:123344911-123345092	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr12:123350967-123351232	HepG2	liver:	n/a	n/a
48	CEBPB	chr12:123350881-123351289	HepG2	liver:	n/a	n/a
49	CEBPB	chr12:123344695-123344725	K562	blood:	n/a	n/a
50	CEBPB	chr12:123350904-123351289	HepG2	liver:	n/a	n/a

(count:2443 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123351782-123351832	A549	lung:	n/a
2	chr12:123340936-123340986	HNPCEpiC	eye:	n/a
3	chr12:123340981-123341031	HEEpiC	esophagus:	n/a
4	chr12:123351782-123351832	A549	lung:	n/a
5	chr12:123340936-123340986	HNPCEpiC	eye:	n/a
6	chr12:123340981-123341031	HEEpiC	esophagus:	n/a
7	chr12:123334709-123334759	Hepatocyte	liver:	n/a
8	chr12:123351126-123351176	NH-A	brain:	n/a
9	chr12:123341681-123341731	NB4	blood:	n/a
10	chr12:123326461-123326511	ovcar-3	ovarian:	n/a
11	chr12:123326461-123326511	MCF-7	breast:	n/a
12	chr12:123334513-123334563	HRPEpiC	eye:	n/a
13	chr12:123341735-123341785	SAEC	small airway:	n/a
14	chr12:123347684-123347734	U87	brain:	n/a
15	chr12:123351548-123351598	GM12892	blood:	n/a
16	chr12:123349952-123350002	GM12878	blood:	n/a
17	chr12:123335687-123335737	A549	lung:	n/a
18	chr12:123351868-123351918	HCM	heart:	n/a
19	chr12:123351868-123351918	ProgFib	skin:	n/a
20	chr12:123355562-123355612	PrEC	prostate:	n/a
21	chr12:123350673-123350723	IMR90	lung:	fetal
22	chr12:123339114-123339164	MCF10A-Er-Src	breast:	n/a
23	chr12:123339246-123339296	PrEC	prostate:	n/a
24	chr12:123341665-123341715	AG09309	skin:	n/a
25	chr12:123350077-123350127	AG04450	lung:	fetal
26	chr12:123344689-123344739	HL-60	blood:	n/a
27	chr12:123333035-123333085	RPTEC	kidney:	n/a
28	chr12:123351126-123351176	AG09319	gingival:	n/a
29	chr12:123336568-123336618	HMEC	breast:	n/a
30	chr12:123346710-123346760	SK-N-MC	brain:	n/a
31	chr12:123340818-123340868	T-47D	breast:	n/a
32	chr12:123352680-123352730	HCPEpiC	choroid plexus:	n/a
33	chr12:123349952-123350002	PANC-1	pancreas:	n/a
34	chr12:123326461-123326511	HMEC	breast:	n/a
35	chr12:123352680-123352730	GM12891	blood:	n/a
36	chr12:123351782-123351832	HCF	heart:	n/a
37	chr12:123352600-123352650	GM12891	blood:	n/a
38	chr12:123350361-123350411	Hepatocyte	liver:	n/a
39	chr12:123351868-123351918	HIPEpiC	eye:	n/a
40	chr12:123340936-123340986	PrEC	prostate:	n/a
41	chr12:123357128-123357178	GM19239	blood:	n/a
42	chr12:123334709-123334759	GM12878	blood:	n/a
43	chr12:123340936-123340986	NHDF-neo	bronchial:	n/a
44	chr12:123352774-123352824	ProgFib	skin:	n/a
45	chr12:123344689-123344739	RPTEC	kidney:	n/a
46	chr12:123347897-123347947	HRPEpiC	eye:	n/a
47	chr12:123347684-123347734	BE2_C	brain:	n/a
48	chr12:123334513-123334563	Hela-S3	cervix:	n/a
49	chr12:123355562-123355612	PANC-1	pancreas:	n/a
50	chr12:123333379-123333429	ECC-1	luminal epithelium:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:123358823..123360429-chr12:123368868..123370415,2	K562	blood:
2	chr12:123351397..123354786-chr12:123371825..123377880,6	MCF-7	breast:
3	chr12:123348287..123350765-chr12:123373068..123375043,2	MCF-7	breast:
4	chr12:123346632..123349327-chr12:123372741..123374814,2	MCF-7	breast:
5	chr12:123341218..123343418-chr12:123435392..123437282,2	MCF-7	breast:
6	chr12:123342536..123343202-chr12:123436624..123437128,3	MCF-7	breast:
7	chr12:123327852..123329476-chr12:123331474..123333275,2	K562	blood:
8	chr12:123346730..123349618-chr12:123459301..123462302,3	K562	blood:
9	chr12:123255502..123257176-chr12:123324408..123327320,2	MCF-7	breast:
10	chr12:123352649..123355480-chr12:123433197..123435303,2	K562	blood:
11	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:
12	chr12:123349951..123350563-chr12:123436556..123437356,2	MCF-7	breast:
13	chr12:123346271..123349232-chr12:123377793..123379796,2	K562	blood:
14	chr12:123341988..123344732-chr12:123349863..123352592,2	MCF-7	breast:
15	chr12:123353599..123356535-chr12:123459324..123461652,2	MCF-7	breast:
16	chr12:123327852..123329476-chr12:123331474..123333275,2	K562	blood:
17	chr12:123356440..123358585-chr12:123360097..123361963,2	K562	blood:
18	chr12:123358138..123360225-chr12:123360853..123363329,2	MCF-7	breast:
19	chr12:123319098..123320683-chr12:123341200..123343169,2	MCF-7	breast:
20	chr12:123359999..123363082-chr12:123363364..123366412,4	MCF-7	breast:
21	chr12:123353433..123355596-chr12:123434511..123436337,2	MCF-7	breast:
22	chr12:123341988..123344732-chr12:123349863..123352592,2	MCF-7	breast:
23	chr12:123349944..123351476-chr12:123367250..123369233,2	K562	blood:
24	chr12:123352169..123352839-chr12:123436532..123437356,4	MCF-7	breast:
25	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:
26	chr12:123311285..123313219-chr12:123325523..123328002,2	MCF-7	breast:
27	chr12:123328262..123330774-chr12:123333932..123336446,3	MCF-7	breast:
28	chr12:123348260..123351060-chr12:123715794..123718322,2	K562	blood:
29	chr12:123358923..123360581-chr12:123375537..123377864,2	MCF-7	breast:
30	chr12:123345343..123346928-chr12:123463907..123466458,2	MCF-7	breast:
31	chr12:123331248..123334066-chr12:123346925..123349387,2	K562	blood:
32	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
33	chr12:123330610..123333935-chr12:123339820..123343037,3	MCF-7	breast:
34	chr12:123343068..123345101-chr12:123464542..123466196,2	MCF-7	breast:
35	chr12:123350122..123350678-chr12:123722363..123722904,2	MCF-7	breast:
36	chr12:123357674..123359965-chr12:123366472..123369443,2	MCF-7	breast:
37	chr12:123278336..123278918-chr12:123327242..123327818,2	MCF-7	breast:
38	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:
39	chr12:123331248..123334066-chr12:123346925..123349387,2	K562	blood:
40	chr12:123327206..123329436-chr12:123341380..123343858,2	MCF-7	breast:
41	chr12:123353502..123357222-chr12:123371821..123375830,5	MCF-7	breast:
42	chr12:123325084..123327709-chr12:123347219..123349157,2	MCF-7	breast:
43	chr12:123344900..123345435-chr12:123431652..123432233,2	K562	blood:
44	chr12:123329996..123331775-chr12:123464843..123467149,2	K562	blood:
45	chr12:123355640..123358495-chr12:123449218..123452212,2	MCF-7	breast:
46	chr12:123330610..123333935-chr12:123339820..123343037,3	MCF-7	breast:
47	chr12:123345450..123347445-chr12:123435441..123437142,2	K562	blood:
48	chr11:65265725..65268508-chr12:123341267..123343973,2	MCF-7	breast:
49	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
50	chr12:123344910..123345440-chr12:123436821..123437509,2	HCT-116	colon:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC62-2	chr12:123346651-123347033	NONHSAT031538
2	lnc-CCDC62-2	chr12:123346263-123346544	NONHSAT031538
3	lnc-HIP1R-1	chr12:123349882-123350044	ENSG00000256152.2
4	lnc-HIP1R-1	chr12:123351248-123351568	ENSG00000256152.2
5	lnc-VPS37B-1	chr12:123348100-123348489	NONHSAT031539

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	VPS37B	hsa-miR-34a-5p	chr12:123350129-123350122
2	VPS37B	hsa-miR-34a-5p	chr12:123350123-123350144

Variant related genes	Relation type
HIP1R	TF binding region
VPS37B	TF binding region
ENSG00000256152	TF binding region
HIP1R	CpG island
VPS37B	CpG island
ENSG00000256152	CpG island
ENSG00000251562	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000256028	chromatin interactions

Extended variants
information (count: 1793 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1793 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs897391	chr12:123326374-123326375	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542086455	chr12:123326437-123326438	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560477607	chr12:123326445-123326446	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368049984	chr12:123326461-123326462	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561545739	chr12:123326463-123326464	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527251907	chr12:123326490-123326491	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78245747	chr12:123326499-123326500	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570489266	chr12:123326514-123326515	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73421649	chr12:123326533-123326534	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531449745	chr12:123326583-123326584	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10847864	chr12:123326598-123326599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186783000	chr12:123326672-123326673	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529506813	chr12:123326782-123326783	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141659726	chr12:123326820-123326821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369070640	chr12:123326831-123326832	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376998195	chr12:123326845-123326846	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539403924	chr12:123326861-123326862	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117566398	chr12:123326899-123326900	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146232601	chr12:123326948-123326949	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139287338	chr12:123326976-123326977	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375886184	chr12:123326980-123326981	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111374106	chr12:123327004-123327005	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535332248	chr12:123327043-123327044	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555605661	chr12:123327127-123327128	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554068672	chr12:123327129-123327130	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12426809	chr12:123327143-123327144	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12319654	chr12:123327160-123327161	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564055924	chr12:123327169-123327170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575981609	chr12:123327170-123327171	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192092216	chr12:123327172-123327173	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561670071	chr12:123327179-123327180	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529446842	chr12:123327192-123327193	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541270584	chr12:123327207-123327208	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs559591915	chr12:123327268-123327269	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533463709	chr12:123327360-123327361	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12314494	chr12:123327361-123327362	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370019456	chr12:123327367-123327368	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569693518	chr12:123327381-123327382	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183352293	chr12:123327419-123327420	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12298664	chr12:123327445-123327446	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186531559	chr12:123327586-123327587	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs535610053	chr12:123327599-123327600	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144136604	chr12:123327681-123327682	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562725455	chr12:123327728-123327729	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565916597	chr12:123327765-123327766	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10773657	chr12:123327900-123327901	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558127650	chr12:123327910-123327911	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575978354	chr12:123327920-123327921	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76699894	chr12:123328044-123328045	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555391734	chr12:123328057-123328058	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1875 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321600-123326400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:123321600-123327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123321600-123332800	Weak transcription	Ovary	ovary
4	chr12:123321600-123333000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
6	chr12:123322000-123332400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:123322400-123329000	Weak transcription	Thymus	Thymus
8	chr12:123322600-123332600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:123322800-123327200	Enhancers	Liver	Liver
10	chr12:123322800-123329600	Weak transcription	Spleen	Spleen
11	chr12:123322800-123334000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:123322800-123334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:123322800-123339600	Weak transcription	Dnd41	blood
14	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:123323000-123326600	Weak transcription	K562	blood
16	chr12:123323000-123330400	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr12:123323200-123326800	Genic enhancers	NHEK	skin
18	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:123323600-123326600	Strong transcription	Primary T cells from cord blood	blood
22	chr12:123323600-123332400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:123323800-123326400	Genic enhancers	Duodenum Mucosa	Duodenum
25	chr12:123323800-123326600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:123323800-123327600	Genic enhancers	Fetal Intestine Small	intestine
27	chr12:123323800-123329200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:123323800-123331000	Enhancers	Stomach Mucosa	stomach
29	chr12:123324000-123327400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:123324200-123326800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:123324200-123327200	Strong transcription	Primary B cells from cord blood	blood
32	chr12:123324400-123326400	Enhancers	Right Ventricle	heart
33	chr12:123324400-123326600	Enhancers	NHLF	lung
34	chr12:123324400-123326800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:123324400-123328200	Enhancers	Lung	lung
36	chr12:123324400-123328400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:123324600-123326400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:123324600-123326600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:123324600-123326600	Enhancers	Psoas Muscle	Psoas
40	chr12:123324600-123326800	Enhancers	Esophagus	oesophagus
41	chr12:123324600-123326800	Enhancers	NHDF-Ad	bronchial
42	chr12:123324600-123327400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:123324600-123327600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:123324600-123330400	Enhancers	Right Atrium	heart
45	chr12:123324600-123330600	Enhancers	Left Ventricle	heart
46	chr12:123324600-123330800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:123324800-123326600	Enhancers	A549	lung
50	chr12:123324800-123327600	Enhancers	Skeletal Muscle Female	skeletal muscle

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