Variant report

Variant	rs201238806
Chromosome Location	chr12:122710531-122710532
allele	A/T
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	TCF3	chr12:122710417-122710601	GM12878	blood:	n/a	n/a
18	NFYB	chr12:122710523-122710897	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:122710148-122711246	Raji	blood:	n/a	n/a
20	EGR1	chr12:122710267-122710822	GM12878	blood:	n/a	chr12:122710706-122710719 chr12:122710663-122710673 chr12:122710663-122710676 chr12:122710591-122710600
21	YY1	chr12:122710179-122710763	K562	blood:	n/a	chr12:122710434-122710448
22	ATF2	chr12:122710249-122710777	GM12878	blood:	n/a	n/a
23	REST	chr12:122710299-122711441	ECC-1	luminal epithelium:	n/a	chr12:122710451-122710458 chr12:122710449-122710456 chr12:122711391-122711404 chr12:122710451-122710460
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	chr12:122710506-122710556	A549	lung:	n/a
2	chr12:122710506-122710556	SAEC	small airway:	n/a
3	chr12:122710506-122710556	HCM	heart:	n/a
4	chr12:122710506-122710556	HCPEpiC	choroid plexus:	n/a
5	chr12:122710506-122710556	Jurkat	blood:	n/a
6	chr12:122710506-122710556	HEK293	kidney:	embryo
7	chr12:122710506-122710556	LNCaP	prostate:	n/a
8	chr12:122710506-122710556	HepG2	liver:	n/a
9	chr12:122710506-122710556	AG04450	lung:	fetal
10	chr12:122710506-122710556	ProgFib	skin:	n/a
11	chr12:122710506-122710556	T-47D	breast:	n/a
12	chr12:122710506-122710556	SK-N-MC	brain:	n/a
13	chr12:122710506-122710556	ovcar-3	ovarian:	n/a
14	chr12:122710506-122710556	GM12891	blood:	n/a
15	chr12:122710506-122710556	ECC-1	luminal epithelium:	n/a
16	chr12:122710506-122710556	HIPEpiC	eye:	n/a
17	chr12:122710506-122710556	RPTEC	kidney:	n/a
18	chr12:122710506-122710556	MCF-7	breast:	n/a
19	chr12:122710506-122710556	HNPCEpiC	eye:	n/a
20	chr12:122710506-122710556	PFSK-1	brain:	n/a
21	chr12:122710506-122710556	SK-N-SH_RA	brain:	n/a
22	chr12:122710506-122710556	AoSMC	blood vessel:	n/a
23	chr12:122710506-122710556	HEEpiC	esophagus:	n/a
24	chr12:122710506-122710556	NH-A	brain:	n/a
25	chr12:122710506-122710556	NHDF-neo	bronchial:	n/a
26	chr12:122710506-122710556	PANC-1	pancreas:	n/a
27	chr12:122710506-122710556	IMR90	lung:	fetal
28	chr12:122710506-122710556	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:122710506-122710556	NHBE	bronchial:	n/a
30	chr12:122710506-122710556	AG04449	skin:	fetal
31	chr12:122710506-122710556	HUVEC	blood vessel:	n/a
32	chr12:122710506-122710556	CMK	blood:	n/a
33	chr12:122710506-122710556	BJ	skin:	n/a
34	chr12:122710506-122710556	BE2_C	brain:	n/a
35	chr12:122710506-122710556	U87	brain:	n/a
36	chr12:122710506-122710556	HRCEpiC	kidney:	n/a
37	chr12:122710506-122710556	AG09319	gingival:	n/a
38	chr12:122710506-122710556	Hela-S3	cervix:	n/a
39	chr12:122710506-122710556	HRE	kidney:	n/a
40	chr12:122710506-122710556	SKMC	muscle:	n/a
41	chr12:122710506-122710556	HL-60	blood:	n/a
42	chr12:122710506-122710556	GM19239	blood:	n/a
43	chr12:122710506-122710556	HRPEpiC	eye:	n/a
44	chr12:122710506-122710556	AG09309	skin:	n/a
45	chr12:122710506-122710556	Caco-2	colon:	n/a
46	chr12:122710506-122710556	GM12878	blood:	n/a
47	chr12:122710506-122710556	SK-N-SH	brain:	n/a
48	chr12:122710506-122710556	HAEpiC	amniotic membrane:	n/a
49	chr12:122710506-122710556	NB4	blood:	n/a
50	chr12:122710506-122710556	GM06990	blood:	n/a

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
ENSG00000212694	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000204856	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000111231	Chromatin interaction
ENSG00000184445	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122709000-122710600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr12:122709200-122710800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:122709200-122711200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:122709200-122711400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:122709200-122711400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:122709200-122711400	Active TSS	Fetal Kidney	kidney
7	chr12:122709200-122711400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:122709400-122710600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:122709400-122710600	Active TSS	HSMMtube	muscle
10	chr12:122709400-122711000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr12:122709400-122711000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:122709400-122711000	Active TSS	HMEC	breast
13	chr12:122709400-122711000	Active TSS	HSMM	muscle
14	chr12:122709400-122711000	Active TSS	NHLF	lung
15	chr12:122709400-122711200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:122709400-122711200	Active TSS	NHDF-Ad	bronchial
17	chr12:122709400-122711400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:122709400-122711400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:122709400-122711400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:122709400-122711400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:122709400-122711600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:122709600-122710600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122709600-122710800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:122709600-122711000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:122709600-122711000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:122709600-122711000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:122709600-122711000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:122709600-122711000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:122709600-122711000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr12:122709600-122711000	Weak transcription	Fetal Heart	heart
31	chr12:122709600-122711000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr12:122709600-122711000	Active TSS	Right Atrium	heart
33	chr12:122709600-122711000	Active TSS	Right Ventricle	heart
34	chr12:122709600-122711000	Active TSS	GM12878-XiMat	blood
35	chr12:122709600-122711000	Active TSS	K562	blood
36	chr12:122709600-122711000	Active TSS	NHEK	skin
37	chr12:122709600-122711200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:122709600-122711200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:122709600-122711200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:122709600-122711200	Active TSS	Ovary	ovary
41	chr12:122709600-122711200	Active TSS	Psoas Muscle	Psoas
42	chr12:122709600-122711200	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:122709600-122711200	Active TSS	A549	lung
44	chr12:122709600-122711200	Active TSS	Hela-S3	cervix
45	chr12:122709600-122711200	Active TSS	NH-A	brain
46	chr12:122709600-122711200	Active TSS	Osteobl	bone
47	chr12:122709800-122710600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:122709800-122710600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:122709800-122710600	Active TSS	Fetal Intestine Small	intestine
50	chr12:122709800-122710600	Active TSS	Sigmoid Colon	Sigmoid Colon

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