Variant report

Variant	nsv832531
Chromosome Location	chr12:121440495-121604232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4302)
CpG islands
(count:2443)
Chromatin interactive
region (count:174)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4302 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121454126-121454492	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:121497991-121498204	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:121566791-121567654	K562	blood:	n/a	n/a
4	ARID3A	chr12:121455416-121455815	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:121463440-121464449	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:121548072-121548453	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:121562061-121562665	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:121602774-121602971	K562	blood:	n/a	n/a
9	ARID3A	chr12:121566854-121567036	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:121443210-121443412	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:121523699-121523880	HepG2	liver:	n/a	n/a
12	ARID3A	chr12:121443216-121443451	K562	blood:	n/a	n/a
13	ARID3A	chr12:121554555-121555038	HepG2	liver:	n/a	n/a
14	ATF1	chr12:121603228-121603427	K562	blood:	n/a	n/a
15	ATF1	chr12:121569831-121570036	K562	blood:	n/a	n/a
16	ATF1	chr12:121558234-121558481	K562	blood:	n/a	n/a
17	ATF1	chr12:121548142-121548488	K562	blood:	n/a	n/a
18	ATF1	chr12:121454106-121454550	K562	blood:	n/a	n/a
19	ATF1	chr12:121570380-121570704	K562	blood:	n/a	n/a
20	ATF1	chr12:121456015-121456311	K562	blood:	n/a	n/a
21	ATF1	chr12:121566717-121567709	K562	blood:	n/a	n/a
22	ATF1	chr12:121562281-121562579	K562	blood:	n/a	n/a
23	ATF1	chr12:121554252-121554339	K562	blood:	n/a	n/a
24	ATF1	chr12:121529137-121529138	K562	blood:	n/a	n/a
25	ATF1	chr12:121551788-121552180	K562	blood:	n/a	n/a
26	ATF1	chr12:121581689-121582010	K562	blood:	n/a	n/a
27	ATF1	chr12:121582305-121582486	K562	blood:	n/a	n/a
28	ATF1	chr12:121480947-121481240	K562	blood:	n/a	n/a
29	ATF2	chr12:121454054-121454531	GM12878	blood:	n/a	n/a
30	ATF2	chr12:121533611-121534068	GM12878	blood:	n/a	n/a
31	ATF2	chr12:121566714-121567459	GM12878	blood:	n/a	n/a
32	ATF2	chr12:121476753-121477249	GM12878	blood:	n/a	n/a
33	ATF2	chr12:121581584-121582101	GM12878	blood:	n/a	n/a
34	ATF2	chr12:121566798-121567437	GM12878	blood:	n/a	n/a
35	ATF2	chr12:121547862-121548404	GM12878	blood:	n/a	n/a
36	ATF2	chr12:121454059-121454576	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr12:121548101-121548552	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr12:121454087-121454511	GM12878	blood:	n/a	n/a
39	ATF2	chr12:121597229-121597614	GM12878	blood:	n/a	n/a
40	ATF3	chr12:121562110-121562601	HCT-116	colon:	n/a	n/a
41	ATF3	chr12:121581608-121581979	K562	blood:	n/a	n/a
42	ATF3	chr12:121523628-121523846	HepG2	liver:	n/a	n/a
43	ATF3	chr12:121488586-121488835	GM12878	blood:	n/a	n/a
44	ATF3	chr12:121548098-121548416	K562	blood:	n/a	n/a
45	ATF3	chr12:121484435-121484678	K562	blood:	n/a	n/a
46	ATF3	chr12:121454171-121454453	K562	blood:	n/a	chr12:121454331-121454339 chr12:121454330-121454343 chr12:121454330-121454341 chr12:121454332-121454339 chr12:121454329-121454339 chr12:121454336-121454345 chr12:121454332-121454342 chr12:121454330-121454341 chr12:121454328-121454343 chr12:121454332-121454340
47	ATF3	chr12:121576172-121576432	K562	blood:	n/a	n/a
48	ATF3	chr12:121562226-121562539	K562	blood:	n/a	n/a
49	ATF3	chr12:121454074-121454461	H1-hESC	embryonic stem cell:	n/a	chr12:121454331-121454339 chr12:121454330-121454343 chr12:121454330-121454341 chr12:121454332-121454339 chr12:121454329-121454339 chr12:121454336-121454345 chr12:121454332-121454342 chr12:121454330-121454341 chr12:121454328-121454343 chr12:121454332-121454340
50	ATF3	chr12:121562132-121562469	A549	lung:	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	chr12:121570081-121570131	HIPEpiC	eye:	n/a
2	chr12:121570752-121570802	HepG2	liver:	n/a
3	chr12:121441714-121441764	SAEC	small airway:	n/a
4	chr12:121570081-121570131	HIPEpiC	eye:	n/a
5	chr12:121570752-121570802	HepG2	liver:	n/a
6	chr12:121441714-121441764	SAEC	small airway:	n/a
7	chr12:121570677-121570727	ProgFib	skin:	n/a
8	chr12:121498343-121498393	ovcar-3	ovarian:	n/a
9	chr12:121513978-121514028	MCF10A-Er-Src	breast:	n/a
10	chr12:121570081-121570131	K562	blood:	n/a
11	chr12:121477854-121477904	SK-N-MC	brain:	n/a
12	chr12:121570571-121570621	Caco-2	colon:	n/a
13	chr12:121450381-121450431	NHDF-neo	bronchial:	n/a
14	chr12:121454837-121454887	GM06990	blood:	n/a
15	chr12:121571068-121571118	ovcar-3	ovarian:	n/a
16	chr12:121533833-121533883	HUVEC	blood vessel:	n/a
17	chr12:121570677-121570727	HIPEpiC	eye:	n/a
18	chr12:121454272-121454322	IMR90	lung:	fetal
19	chr12:121570571-121570621	PANC-1	pancreas:	n/a
20	chr12:121498343-121498393	GM12878	blood:	n/a
21	chr12:121534028-121534078	AG09309	skin:	n/a
22	chr12:121569969-121570019	HL-60	blood:	n/a
23	chr12:121454162-121454212	ProgFib	skin:	n/a
24	chr12:121533668-121533718	GM19239	blood:	n/a
25	chr12:121530737-121530787	BE2_C	brain:	n/a
26	chr12:121571068-121571118	ProgFib	skin:	n/a
27	chr12:121569969-121570019	BE2_C	brain:	n/a
28	chr12:121476596-121476646	Caco-2	colon:	n/a
29	chr12:121534028-121534078	PFSK-1	brain:	n/a
30	chr12:121477854-121477904	GM06990	blood:	n/a
31	chr12:121498343-121498393	HUVEC	blood vessel:	n/a
32	chr12:121570081-121570131	AG04449	skin:	fetal
33	chr12:121450381-121450431	AG09319	gingival:	n/a
34	chr12:121454133-121454183	HL-60	blood:	n/a
35	chr12:121454162-121454212	HEK293	kidney:	embryo
36	chr12:121582875-121582925	HRPEpiC	eye:	n/a
37	chr12:121570677-121570727	HRE	kidney:	n/a
38	chr12:121454288-121454338	NT2-D1	testis:	n/a
39	chr12:121570677-121570727	H1-hESC	embryonic stem cell:	embryo
40	chr12:121476792-121476842	T-47D	breast:	n/a
41	chr12:121477093-121477143	SKMC	muscle:	n/a
42	chr12:121454335-121454385	HEEpiC	esophagus:	n/a
43	chr12:121570081-121570131	GM06990	blood:	n/a
44	chr12:121476549-121476599	HRE	kidney:	n/a
45	chr12:121454837-121454887	T-47D	breast:	n/a
46	chr12:121454133-121454183	HCF	heart:	n/a
47	chr12:121454133-121454183	HCM	heart:	n/a
48	chr12:121477093-121477143	BJ	skin:	n/a
49	chr12:121450381-121450431	ovcar-3	ovarian:	n/a
50	chr12:121454837-121454887	H1-hESC	embryonic stem cell:	embryo

(count:174 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr12:121522589..121524911-chr12:121528205..121530297,3	K562	blood:
2	chr12:121547911..121548611-chr12:121647690..121648251,2	MCF-7	breast:
3	chr12:121528483..121531655-chr12:121531657..121534218,3	MCF-7	breast:
4	chr12:121442812..121445650-chr12:121451524..121454471,3	K562	blood:
5	chr12:121540942..121542575-chr12:121550109..121552835,2	K562	blood:
6	chr12:121499386..121500506-chr12:121533456..121534392,4	K562	blood:
7	chr12:121582333..121584547-chr12:121587526..121589341,2	K562	blood:
8	chr12:121548947..121551862-chr12:121555011..121556681,2	MCF-7	breast:
9	chr12:121455739..121458547-chr12:121462154..121463997,2	MCF-7	breast:
10	chr12:121528483..121531655-chr12:121531657..121534218,3	MCF-7	breast:
11	chr12:121575022..121577625-chr12:121581601..121583531,2	MCF-7	breast:
12	chr12:121459441..121461737-chr12:121477927..121480607,2	K562	blood:
13	chr12:121561837..121563360-chr12:121583686..121585355,2	K562	blood:
14	chr12:121445828..121451054-chr12:121451445..121454709,11	K562	blood:
15	chr12:121472155..121474661-chr12:121478426..121481122,2	K562	blood:
16	chr12:121547752..121548609-chr12:121647435..121648349,3	MCF-7	breast:
17	chr12:121447305..121448170-chr12:121547918..121548565,2	MCF-7	breast:
18	chr12:121525545..121528351-chr12:121648009..121649745,2	MCF-7	breast:
19	chr12:121495209..121497796-chr12:121499977..121502641,3	K562	blood:
20	chr12:121565478..121567856-chr12:121646838..121650208,3	K562	blood:
21	chr12:121569572..121570160-chr12:121640475..121641223,2	MCF-7	breast:
22	chr12:121564281..121567226-chr12:121569639..121571152,2	MCF-7	breast:
23	chr12:121565146..121566829-chr12:121666395..121668307,2	MCF-7	breast:
24	chr12:121590684..121593729-chr12:121595219..121598462,4	K562	blood:
25	chr12:121481372..121483233-chr12:121486748..121488250,2	K562	blood:
26	chr12:121490675..121493658-chr12:121495456..121497011,2	K562	blood:
27	chr12:121566738..121568870-chr12:121570376..121572315,2	MCF-7	breast:
28	chr12:121472155..121474661-chr12:121478426..121481122,2	K562	blood:
29	chr12:121452643..121457408-chr12:121461392..121466070,6	MCF-7	breast:
30	chr12:121499386..121500506-chr12:121533456..121534392,4	K562	blood:
31	chr12:121454608..121456254-chr12:121460515..121463475,3	K562	blood:
32	chr12:121593680..121596400-chr12:121646406..121649307,2	K562	blood:
33	chr12:121447247..121448275-chr12:121533293..121534356,3	MCF-7	breast:
34	chr12:121552705..121555604-chr12:121668224..121669822,2	MCF-7	breast:
35	chr12:121483901..121486142-chr12:121487218..121490045,2	K562	blood:
36	chr12:121590684..121593729-chr12:121595219..121598462,4	K562	blood:
37	chr12:121502918..121505798-chr12:121509128..121510948,2	K562	blood:
38	chr12:121473524..121476101-chr12:121524769..121527497,2	K562	blood:
39	chr12:121409514..121410021-chr12:121548070..121548945,2	K562	blood:
40	chr12:121552789..121554818-chr12:121661360..121664343,2	MCF-7	breast:
41	chr12:121453006..121455814-chr12:121464370..121466232,2	K562	blood:
42	chr12:121593895..121595665-chr12:121598530..121600220,2	K562	blood:
43	chr12:121561171..121566774-chr12:121646455..121649214,5	MCF-7	breast:
44	chr12:121437329..121439942-chr12:121440076..121441663,2	K562	blood:
45	chr12:121533067..121535799-chr12:121628437..121630049,2	K562	blood:
46	chr12:121462116..121464172-chr12:121497468..121500006,2	MCF-7	breast:
47	chr12:121582333..121584547-chr12:121587526..121589341,2	K562	blood:
48	chr12:121455739..121458547-chr12:121462154..121463997,2	MCF-7	breast:
49	chr12:121443137..121444963-chr12:121449625..121451218,2	K562	blood:
50	chr12:121463340..121465773-chr12:121472717..121474961,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAMKK2-6	chr12:121600009-121600220	NONHSAT031413
2	lnc-P2RX7-6	chr12:121517645-121517927	NONHSAT031263
3	lnc-P2RX7-2	chr12:121557252-121557692	XLOC_009912
4	lnc-P2RX7-2	chr12:121557252-121558609	XLOC_009912
5	lnc-P2RX7-2	chr12:121556258-121556287	XLOC_009912
6	lnc-P2RX7-2	chr12:121555321-121555362	XLOC_009912

No data

Variant related genes	Relation type
ENSG00000271769	TF binding region
ENSG00000201945	TF binding region
P2RX7	TF binding region
C12orf43	TF binding region
ENSG00000257053	TF binding region
OASL	TF binding region
ENSG00000223538	TF binding region
ENSG00000256963	TF binding region
ENSG00000271769	CpG island
ENSG00000201945	CpG island
P2RX7	CpG island
C12orf43	CpG island
ENSG00000257053	CpG island
OASL	CpG island
ENSG00000223538	CpG island
ENSG00000256963	CpG island
ENSG00000135100	chromatin interactions
ENSG00000135124	chromatin interactions
ENSG00000257053	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000089041	chromatin interactions
ENSG00000167272	chromatin interactions
ENSG00000256963	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000271769	chromatin interactions
ENSG00000135114	chromatin interactions
ENSG00000157895	chromatin interactions
HIVEP2	miRNA target sites

Extended variants
information (count: 6717 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:6717 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41279100	chr12:121440510-121440511	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146534490	chr12:121440517-121440518	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547274480	chr12:121440589-121440590	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567426074	chr12:121440621-121440622	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575763348	chr12:121440662-121440663	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149112015	chr12:121440664-121440665	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541549995	chr12:121440694-121440695	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1169311	chr12:121440731-121440732	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538636762	chr12:121440733-121440734	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558529759	chr12:121440747-121440748	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571979622	chr12:121440772-121440773	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527492894	chr12:121440785-121440786	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs193245913	chr12:121440822-121440823	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201229780	chr12:121440828-121440829	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535217845	chr12:121440834-121440835	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs71076699	chr12:121440835-121440836	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78545945	chr12:121440846-121440847	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs398021377	chr12:121440847-121440848	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549188422	chr12:121440850-121440851	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117954748	chr12:121440865-121440866	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371832906	chr12:121440870-121440871	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs117509570	chr12:121440878-121440879	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183634801	chr12:121440891-121440892	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576067081	chr12:121440894-121440895	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545008505	chr12:121440917-121440918	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188582329	chr12:121440970-121440971	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs527602776	chr12:121440974-121440975	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs143182237	chr12:121440993-121440994	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560958473	chr12:121441021-121441022	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192778876	chr12:121441027-121441028	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs56922026	chr12:121441124-121441125	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148256533	chr12:121441144-121441145	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532204852	chr12:121441164-121441165	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552205524	chr12:121441217-121441218	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184046090	chr12:121441219-121441220	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544484296	chr12:121441259-121441260	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188438469	chr12:121441283-121441284	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs56383076	chr12:121441333-121441334	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536841352	chr12:121441360-121441361	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs2178464	chr12:121441440-121441441	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1169312	chr12:121441461-121441462	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs3751153	chr12:121441468-121441469	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527691515	chr12:121441474-121441475	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572092143	chr12:121441513-121441514	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370864344	chr12:121441556-121441557	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191088838	chr12:121441580-121441581	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540993355	chr12:121441600-121441601	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs191296204	chr12:121441616-121441617	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574586483	chr12:121441645-121441646	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374046049	chr12:121441696-121441697	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Autism	22495311	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
Urothelial carcinoma	21177765	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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3492 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
3	chr12:121427600-121442600	Strong transcription	Fetal Intestine Large	intestine
4	chr12:121427800-121441200	Strong transcription	Fetal Intestine Small	intestine
5	chr12:121429800-121442000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr12:121431200-121440600	Weak transcription	Fetal Lung	lung
8	chr12:121432600-121441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:121433200-121448200	Weak transcription	Fetal Kidney	kidney
10	chr12:121433600-121440600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:121435400-121441200	Weak transcription	HSMM	muscle
12	chr12:121436000-121441200	Weak transcription	NHEK	skin
13	chr12:121436400-121441200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:121436600-121440800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:121436600-121452800	Weak transcription	Fetal Heart	heart
16	chr12:121436800-121441000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:121436800-121441000	Weak transcription	HSMMtube	muscle
18	chr12:121436800-121442000	Weak transcription	GM12878-XiMat	blood
19	chr12:121436800-121442400	Weak transcription	Hela-S3	cervix
20	chr12:121437000-121441000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:121437200-121441000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:121437200-121441200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:121437400-121441200	Weak transcription	Primary B cells from cord blood	blood
24	chr12:121437400-121442800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:121437600-121452000	Strong transcription	Fetal Stomach	stomach
26	chr12:121437600-121453000	Weak transcription	Fetal Brain Male	brain
27	chr12:121437600-121453600	Weak transcription	Right Atrium	heart
28	chr12:121437800-121441000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:121437800-121441600	Weak transcription	Aorta	Aorta
30	chr12:121437800-121441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:121437800-121451200	Strong transcription	A549	lung
32	chr12:121438000-121441000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:121438000-121441200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:121438000-121442000	Strong transcription	Liver	Liver
35	chr12:121438000-121442400	Strong transcription	Pancreas	Pancrea
36	chr12:121438200-121441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:121438200-121441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:121438200-121441200	Weak transcription	NH-A	brain
39	chr12:121438400-121448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:121438400-121451200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:121438400-121451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:121438600-121441200	Weak transcription	Brain Substantia Nigra	brain
43	chr12:121438600-121442600	Strong transcription	Colonic Mucosa	Colon
44	chr12:121438600-121444800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:121438600-121445000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:121438600-121449000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:121438600-121451200	Strong transcription	Spleen	Spleen
48	chr12:121438600-121451400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:121438600-121451400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:121438600-121451600	Strong transcription	Primary T cells from cord blood	blood

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