Variant report

Variant	rs536711654
Chromosome Location	chr12:122710607-122710608
allele	A/C
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	POLR2A	chr12:122710068-122711181	HUVEC	blood vessel:	n/a	n/a
2	YY1	chr12:122709939-122710779	GM12892	blood:	n/a	chr12:122710434-122710448
3	MXI1	chr12:122710136-122711163	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:122710097-122710765	HUVEC	blood vessel:	n/a	n/a
5	REST	chr12:122710136-122711629	SK-N-SH	brain:	n/a	chr12:122710451-122710458 chr12:122710449-122710456 chr12:122711391-122711404 chr12:122710451-122710460
6	POLR2A	chr12:122709860-122711383	K562	blood:	n/a	n/a
7	REST	chr12:122710139-122711454	HCT-116	colon:	n/a	chr12:122710451-122710458 chr12:122710449-122710456 chr12:122711391-122711404 chr12:122710451-122710460
8	YY1	chr12:122710038-122710897	GM12878	blood:	n/a	chr12:122710434-122710448
9	POLR2A	chr12:122710122-122711181	GM18526	blood:	n/a	n/a
10	POLR2A	chr12:122709814-122710883	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:122710216-122711225	K562	blood:	n/a	n/a
12	SRF	chr12:122710319-122711175	ECC-1	luminal epithelium:	n/a	chr12:122710437-122710447
13	POLR2A	chr12:122709964-122710766	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:122709923-122710931	U87	brain:	n/a	n/a
15	POLR2A	chr12:122709831-122710887	HUVEC	blood vessel:	n/a	n/a
16	ZNF263	chr12:122709976-122710681	K562	blood:	n/a	n/a
17	NFYB	chr12:122710523-122710897	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:122710148-122711246	Raji	blood:	n/a	n/a
19	EGR1	chr12:122710267-122710822	GM12878	blood:	n/a	chr12:122710706-122710719 chr12:122710663-122710673 chr12:122710663-122710676 chr12:122710591-122710600
20	YY1	chr12:122710179-122710763	K562	blood:	n/a	chr12:122710434-122710448
21	ATF2	chr12:122710249-122710777	GM12878	blood:	n/a	n/a
22	REST	chr12:122710299-122711441	ECC-1	luminal epithelium:	n/a	chr12:122710451-122710458 chr12:122710449-122710456 chr12:122711391-122711404 chr12:122710451-122710460
23	GTF2F1	chr12:122710532-122710732	K562	blood:	n/a	n/a
24	POLR2A	chr12:122710213-122710818	GM12892	blood:	n/a	n/a
25	HA-E2F1	chr12:122710233-122711319	MCF-7	breast:	n/a	n/a
26	E2F4	chr12:122710487-122710862	GM12878	blood:	n/a	n/a
27	SIN3A	chr12:122710165-122710642	GM12878	blood:	n/a	n/a
28	TCF7L2	chr12:122710373-122710754	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr12:122710299-122710755	HepG2	liver:	n/a	n/a
30	FOSL2	chr12:122710124-122710736	A549	lung:	n/a	n/a
31	MBD4	chr12:122710371-122710685	HepG2	liver:	n/a	n/a
32	MAX	chr12:122710453-122710685	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:122710185-122710845	GM12891	blood:	n/a	n/a
34	MYC	chr12:122710276-122711333	K562	blood:	n/a	chr12:122710697-122710707
35	BCLAF1	chr12:122710015-122710780	GM12878	blood:	n/a	chr12:122710591-122710600 chr12:122710495-122710508
36	TCF12	chr12:122709938-122711388	A549	lung:	n/a	n/a
37	SP1	chr12:122710219-122711185	GM12878	blood:	n/a	chr12:122710661-122710671 chr12:122710660-122710672 chr12:122710661-122710671
38	REST	chr12:122710247-122711767	PFSK-1	brain:	n/a	chr12:122710451-122710458 chr12:122710449-122710456 chr12:122711391-122711404 chr12:122710451-122710460
39	ELK1	chr12:122710177-122710922	Hela-S3	cervix:	n/a	chr12:122710591-122710600 chr12:122710591-122710600
40	TEAD4	chr12:122710414-122710814	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr12:122710434-122710879	Hela-S3	cervix:	n/a	n/a
42	ETS1	chr12:122710231-122710703	K562	blood:	n/a	chr12:122710587-122710603 chr12:122710591-122710600 chr12:122710592-122710602 chr12:122710591-122710600 chr12:122710591-122710600 chr12:122710588-122710601 chr12:122710591-122710600 chr12:122710591-122710600 chr12:122710584-122710600
43	CREB1	chr12:122710113-122711287	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr12:122710126-122710653	H1-hESC	embryonic stem cell:	n/a	n/a
45	FOXP2	chr12:122710241-122711237	PFSK-1	brain:	n/a	n/a
46	REST	chr12:122710285-122711446	HCT-116	colon:	n/a	chr12:122710451-122710458 chr12:122710449-122710456 chr12:122711391-122711404 chr12:122710451-122710460
47	ZNF143	chr12:122710390-122711165	GM12878	blood:	n/a	n/a
48	PML	chr12:122709748-122710906	GM12878	blood:	n/a	n/a
49	MXI1	chr12:122708973-122714391	SK-N-SH	brain:	n/a	n/a
50	SMC3	chr12:122710388-122710866	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122710569-122710619	LNCaP	prostate:	n/a
2	chr12:122710569-122710619	HIPEpiC	eye:	n/a
3	chr12:122710569-122710619	GM19239	blood:	n/a
4	chr12:122710569-122710619	Jurkat	blood:	n/a
5	chr12:122710569-122710619	SAEC	small airway:	n/a
6	chr12:122710569-122710619	ECC-1	luminal epithelium:	n/a
7	chr12:122710569-122710619	AG09319	gingival:	n/a
8	chr12:122710569-122710619	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:122710569-122710619	SK-N-MC	brain:	n/a
10	chr12:122710569-122710619	Hela-S3	cervix:	n/a
11	chr12:122710569-122710619	PrEC	prostate:	n/a
12	chr12:122710569-122710619	Hepatocyte	liver:	n/a
13	chr12:122710569-122710619	HEEpiC	esophagus:	n/a
14	chr12:122710569-122710619	BJ	skin:	n/a
15	chr12:122710569-122710619	HCPEpiC	choroid plexus:	n/a
16	chr12:122710569-122710619	PFSK-1	brain:	n/a
17	chr12:122710569-122710619	RPTEC	kidney:	n/a
18	chr12:122710569-122710619	AG09309	skin:	n/a
19	chr12:122710569-122710619	GM06990	blood:	n/a
20	chr12:122710569-122710619	NH-A	brain:	n/a
21	chr12:122710569-122710619	NT2-D1	testis:	n/a
22	chr12:122710569-122710619	HNPCEpiC	eye:	n/a
23	chr12:122710569-122710619	A549	lung:	n/a
24	chr12:122710569-122710619	PANC-1	pancreas:	n/a
25	chr12:122710569-122710619	HUVEC	blood vessel:	n/a
26	chr12:122710569-122710619	HCM	heart:	n/a
27	chr12:122710569-122710619	SKMC	muscle:	n/a
28	chr12:122710569-122710619	GM12892	blood:	n/a
29	chr12:122710569-122710619	HAEpiC	amniotic membrane:	n/a
30	chr12:122710569-122710619	AoSMC	blood vessel:	n/a
31	chr12:122710569-122710619	MCF10A-Er-Src	breast:	n/a
32	chr12:122710569-122710619	HL-60	blood:	n/a
33	chr12:122710569-122710619	NHBE	bronchial:	n/a
34	chr12:122710569-122710619	IMR90	lung:	fetal
35	chr12:122710569-122710619	MCF-7	breast:	n/a
36	chr12:122710569-122710619	HRPEpiC	eye:	n/a
37	chr12:122710569-122710619	HMEC	breast:	n/a
38	chr12:122710569-122710619	NHDF-neo	bronchial:	n/a
39	chr12:122710569-122710619	Caco-2	colon:	n/a
40	chr12:122710569-122710619	T-47D	breast:	n/a
41	chr12:122710569-122710619	ovcar-3	ovarian:	n/a
42	chr12:122710569-122710619	GM12878	blood:	n/a
43	chr12:122710569-122710619	SK-N-SH	brain:	n/a
44	chr12:122710569-122710619	ProgFib	skin:	n/a
45	chr12:122710569-122710619	GM12891	blood:	n/a
46	chr12:122710569-122710619	NB4	blood:	n/a
47	chr12:122710569-122710619	HCF	heart:	n/a
48	chr12:122710569-122710619	HRE	kidney:	n/a
49	chr12:122710569-122710619	AG10803	skin:	n/a
50	chr12:122710569-122710619	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
2	chr12:122709035..122711225-chr12:122749359..122751433,5	MCF-7	breast:
3	chr12:122707574..122711015-chr12:122711233..122714440,3	K562	blood:
4	chr12:122709020..122710648-chr12:122761773..122763622,2	MCF-7	breast:
5	chr12:110906213..110906741-chr12:122709976..122710701,2	Hela-S3	cervix:
6	chr1:150208031..150209020-chr12:122709773..122710769,2	Hela-S3	cervix:
7	chr12:122710527..122712234-chr12:123464292..123467088,2	K562	blood:
8	chr12:122326249..122328617-chr12:122709300..122711997,3	K562	blood:
9	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
10	chr12:122237205..122238947-chr12:122709096..122710729,2	K562	blood:
11	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
12	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
13	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:
14	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:
15	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
16	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
17	chr12:122709233..122712275-chr12:123010129..123013029,3	K562	blood:

Variant related genes	Relation type
DIABLO	TF binding region
DIABLO	CpG island
ENSG00000139719	Chromatin interaction
ENSG00000111231	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000204856	Chromatin interaction
ENSG00000110801	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv3436338	chr12:122709824-122712372	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122709200-122710800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:122709200-122711200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:122709200-122711400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:122709200-122711400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:122709200-122711400	Active TSS	Fetal Kidney	kidney
6	chr12:122709200-122711400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:122709400-122711000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:122709400-122711000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:122709400-122711000	Active TSS	HMEC	breast
10	chr12:122709400-122711000	Active TSS	HSMM	muscle
11	chr12:122709400-122711000	Active TSS	NHLF	lung
12	chr12:122709400-122711200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:122709400-122711200	Active TSS	NHDF-Ad	bronchial
14	chr12:122709400-122711400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:122709400-122711400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:122709400-122711400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:122709400-122711400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:122709400-122711600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:122709600-122710800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:122709600-122711000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr12:122709600-122711000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:122709600-122711000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:122709600-122711000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:122709600-122711000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:122709600-122711000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:122709600-122711000	Weak transcription	Fetal Heart	heart
27	chr12:122709600-122711000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr12:122709600-122711000	Active TSS	Right Atrium	heart
29	chr12:122709600-122711000	Active TSS	Right Ventricle	heart
30	chr12:122709600-122711000	Active TSS	GM12878-XiMat	blood
31	chr12:122709600-122711000	Active TSS	K562	blood
32	chr12:122709600-122711000	Active TSS	NHEK	skin
33	chr12:122709600-122711200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:122709600-122711200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:122709600-122711200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:122709600-122711200	Active TSS	Ovary	ovary
37	chr12:122709600-122711200	Active TSS	Psoas Muscle	Psoas
38	chr12:122709600-122711200	Active TSS	Rectal Smooth Muscle	rectum
39	chr12:122709600-122711200	Active TSS	A549	lung
40	chr12:122709600-122711200	Active TSS	Hela-S3	cervix
41	chr12:122709600-122711200	Active TSS	NH-A	brain
42	chr12:122709600-122711200	Active TSS	Osteobl	bone
43	chr12:122709800-122711000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:122709800-122711000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:122709800-122711000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:122709800-122711000	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr12:122709800-122711000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:122709800-122711000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:122709800-122711000	Active TSS	Colonic Mucosa	Colon
50	chr12:122709800-122711000	Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links