Variant report

Variant	rs537053605
Chromosome Location	chr12:122687808-122687809
allele	C/G
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	chr12:122687742-122689281	H1-neurons	neurons:	n/a	n/a
2	TEAD4	chr12:122687757-122688168	K562	blood:	n/a	n/a
3	MXI1	chr12:122687489-122689016	SK-N-SH	brain:	n/a	chr12:122688411-122688426
4	E2F6	chr12:122687757-122688605	A549	lung:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
5	MXI1	chr12:122687720-122688682	IMR90	lung:	n/a	chr12:122688411-122688426
6	POLR2A	chr12:122687808-122688518	ECC-1	luminal epithelium:	n/a	n/a
7	ZNF263	chr12:122687739-122688118	HEK293-T-REx	kidney:	n/a	chr12:122688080-122688089
8	POLR2A	chr12:122687764-122688498	A549	lung:	n/a	n/a
9	EGR1	chr12:122687767-122688470	ECC-1	luminal epithelium:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
10	EGR1	chr12:122687754-122688386	K562	blood:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
11	HEY1	chr12:122687787-122688186	K562	blood:	n/a	n/a
12	MAX	chr12:122687673-122688732	A549	lung:	n/a	chr12:122688247-122688257
13	FOXP2	chr12:122687789-122688141	SK-N-MC	brain:	n/a	n/a
14	MAX	chr12:122687708-122688608	HepG2	liver:	n/a	chr12:122688247-122688257
15	SP1	chr12:122687728-122688268	A549	lung:	n/a	chr12:122688247-122688256 chr12:122688217-122688226 chr12:122688248-122688257 chr12:122688246-122688258 chr12:122688216-122688225 chr12:122688246-122688258 chr12:122688247-122688257 chr12:122688053-122688065 chr12:122688216-122688225 chr12:122688247-122688261 chr12:122688216-122688226 chr12:122688199-122688209 chr12:122688247-122688257
16	MAX	chr12:122687687-122688755	ECC-1	luminal epithelium:	n/a	chr12:122688247-122688257
17	TCF12	chr12:122687587-122688190	A549	lung:	n/a	n/a
18	MAX	chr12:122687687-122688668	K562	blood:	n/a	chr12:122688247-122688257
19	MAX	chr12:122687694-122688634	H1-hESC	embryonic stem cell:	n/a	chr12:122688247-122688257
20	EGR1	chr12:122687781-122688283	K562	blood:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
21	SP1	chr12:122687768-122688166	A549	lung:	n/a	chr12:122688053-122688065
22	CREB1	chr12:122687756-122688188	A549	lung:	n/a	n/a
23	POLR2A	chr12:122687782-122688511	MCF-7	breast:	n/a	n/a
24	EP300	chr12:122687754-122688268	T-47D	breast:	n/a	n/a
25	CBX3	chr12:122687726-122688148	K562	blood:	n/a	n/a
26	EGR1	chr12:122687725-122688395	ECC-1	luminal epithelium:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
27	MAX	chr12:122687713-122688185	SK-N-SH	brain:	n/a	n/a
28	E2F6	chr12:122687720-122688502	H1-hESC	embryonic stem cell:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
29	TAF1	chr12:122687761-122688579	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr12:122687690-122688609	A549	lung:	n/a	chr12:122688247-122688257
31	POLR2A	chr12:122687705-122688325	PFSK-1	brain:	n/a	n/a
32	NRF1	chr12:122687790-122688124	GM12878	blood:	n/a	chr12:122687969-122687980
33	TCF12	chr12:122687782-122688477	ECC-1	luminal epithelium:	n/a	n/a
34	MYC	chr12:122687613-122688422	A549	lung:	n/a	chr12:122688247-122688257
35	POLR2A	chr12:122687712-122688189	PANC-1	pancreas:	n/a	n/a
36	E2F6	chr12:122687529-122688660	A549	lung:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
37	E2F6	chr12:122687791-122688609	K562	blood:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
38	MAX	chr12:122687746-122688568	H1-hESC	embryonic stem cell:	n/a	chr12:122688247-122688257
39	MYC	chr12:122687805-122688449	MCF10A-Er-Src	breast:	n/a	chr12:122688247-122688257
40	POLR2A	chr12:122687689-122688454	SK-N-MC	brain:	n/a	n/a
41	YY1	chr12:122687791-122688077	K562	blood:	n/a	n/a
42	EP300	chr12:122686053-122688248	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr12:122687544-122688462	A549	lung:	n/a	n/a
44	SIN3AK20	chr12:122687794-122688666	PANC-1	pancreas:	n/a	n/a
45	E2F6	chr12:122687590-122688544	H1-hESC	embryonic stem cell:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
46	TBP	chr12:122687736-122687986	H1-hESC	embryonic stem cell:	n/a	n/a
47	ARID3A	chr12:122687738-122687865	HepG2	liver:	n/a	n/a
48	RCOR1	chr12:122687741-122688346	K562	blood:	n/a	n/a
49	ZMIZ1	chr12:122687772-122688089	K562	blood:	n/a	n/a
50	POLR2A	chr12:122687698-122688615	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122687758-122687808	AG09319	gingival:	n/a
2	chr12:122687758-122687808	AG09309	skin:	n/a
3	chr12:122687758-122687808	NHBE	bronchial:	n/a
4	chr12:122687758-122687808	NT2-D1	testis:	n/a
5	chr12:122687758-122687808	GM19239	blood:	n/a
6	chr12:122687758-122687808	HNPCEpiC	eye:	n/a
7	chr12:122687758-122687808	K562	blood:	n/a
8	chr12:122687758-122687808	BE2_C	brain:	n/a
9	chr12:122687758-122687808	PrEC	prostate:	n/a
10	chr12:122687758-122687808	Jurkat	blood:	n/a
11	chr12:122687758-122687808	HepG2	liver:	n/a
12	chr12:122687758-122687808	CMK	blood:	n/a
13	chr12:122687758-122687808	SKMC	muscle:	n/a
14	chr12:122687758-122687808	HRPEpiC	eye:	n/a
15	chr12:122687758-122687808	GM12878	blood:	n/a
16	chr12:122687758-122687808	HUVEC	blood vessel:	n/a
17	chr12:122687758-122687808	PANC-1	pancreas:	n/a
18	chr12:122687758-122687808	ECC-1	luminal epithelium:	n/a
19	chr12:122687758-122687808	HRCEpiC	kidney:	n/a
20	chr12:122687758-122687808	RPTEC	kidney:	n/a
21	chr12:122687758-122687808	NHDF-neo	bronchial:	n/a
22	chr12:122687758-122687808	Hela-S3	cervix:	n/a
23	chr12:122687758-122687808	MCF-7	breast:	n/a
24	chr12:122687758-122687808	SK-N-SH_RA	brain:	n/a
25	chr12:122687758-122687808	HCF	heart:	n/a
26	chr12:122687758-122687808	GM06990	blood:	n/a
27	chr12:122687758-122687808	IMR90	lung:	fetal
28	chr12:122687758-122687808	HL-60	blood:	n/a
29	chr12:122687758-122687808	SAEC	small airway:	n/a
30	chr12:122687758-122687808	HPAEpiC	pulmonary alveolar:	n/a
31	chr12:122687758-122687808	GM12891	blood:	n/a
32	chr12:122687758-122687808	AG04450	lung:	fetal
33	chr12:122687758-122687808	HMEC	breast:	n/a
34	chr12:122687758-122687808	Hepatocyte	liver:	n/a
35	chr12:122687758-122687808	HEK293	kidney:	embryo
36	chr12:122687758-122687808	LNCaP	prostate:	n/a
37	chr12:122687758-122687808	ProgFib	skin:	n/a
38	chr12:122687758-122687808	GM12892	blood:	n/a
39	chr12:122687758-122687808	ovcar-3	ovarian:	n/a
40	chr12:122687758-122687808	AoSMC	blood vessel:	n/a
41	chr12:122687758-122687808	SK-N-SH	brain:	n/a
42	chr12:122687758-122687808	SK-N-MC	brain:	n/a
43	chr12:122687758-122687808	HCPEpiC	choroid plexus:	n/a
44	chr12:122687758-122687808	T-47D	breast:	n/a
45	chr12:122687758-122687808	H1-hESC	embryonic stem cell:	embryo
46	chr12:122687758-122687808	NH-A	brain:	n/a
47	chr12:122687758-122687808	MCF10A-Er-Src	breast:	n/a
48	chr12:122687758-122687808	A549	lung:	n/a
49	chr12:122687758-122687808	PFSK-1	brain:	n/a
50	chr12:122687758-122687808	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
2	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
3	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
4	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
5	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
6	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
7	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:

Variant related genes	Relation type
B3GNT4	TF binding region
B3GNT4	CpG island
ENSG00000110987	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3363771	chr12:122687274-122690547	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122687400-122688000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr12:122687400-122688000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
3	chr12:122687400-122688000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:122687400-122688000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr12:122687400-122688000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:122687400-122688000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr12:122687400-122688000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:122687400-122688000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:122687400-122688000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:122687400-122688000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
11	chr12:122687400-122688000	Transcr. at gene 5' and 3'	Right Atrium	heart
12	chr12:122687400-122688200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
13	chr12:122687400-122688600	Active TSS	Brain Hippocampus Middle	brain
14	chr12:122687400-122688600	Active TSS	K562	blood
15	chr12:122687400-122689200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:122687400-122689200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr12:122687400-122689600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:122687400-122690000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:122687600-122688000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
21	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
23	chr12:122687600-122688000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr12:122687600-122688000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122687600-122688000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Placenta	Placenta
35	chr12:122687600-122688000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:122687600-122688000	Active TSS	Right Ventricle	heart
37	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr12:122687600-122688000	Bivalent Enhancer	Small Intestine	intestine
39	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr12:122687600-122688000	Flanking Active TSS	HMEC	breast
41	chr12:122687600-122688000	Flanking Active TSS	NHEK	skin
42	chr12:122687600-122688200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:122687600-122688200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:122687600-122688200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:122687600-122688200	Bivalent/Poised TSS	Fetal Brain Male	brain
46	chr12:122687600-122688200	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr12:122687600-122688200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr12:122687600-122688400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr12:122687600-122688400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:122687600-122688400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood

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