Variant report

Variant	rs12796284
Chromosome Location	chr11:63536857-63536858
allele	A/G/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	EGR1	chr11:63536282-63537136	K562	blood:	n/a	chr11:63536848-63536858 chr11:63536976-63536985 chr11:63537001-63537014 chr11:63536571-63536584 chr11:63536613-63536623 chr11:63536845-63536858
2	FOS	chr11:63536781-63537157	HUVEC	blood vessel:	n/a	chr11:63536987-63536998 chr11:63536989-63536997 chr11:63536988-63536998 chr11:63536988-63536998
3	SIN3AK20	chr11:63536131-63537036	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:63535312-63536999	HepG2	liver:	n/a	n/a
5	EGR1	chr11:63536230-63537272	HCT-116	colon:	n/a	chr11:63536848-63536858 chr11:63536976-63536985 chr11:63537001-63537014 chr11:63536571-63536584 chr11:63536613-63536623 chr11:63536845-63536858
6	POLR2A	chr11:63536018-63536931	A549	lung:	n/a	n/a
7	SIN3A	chr11:63536294-63537618	H1-hESC	embryonic stem cell:	n/a	chr11:63536360-63536371
8	MAZ	chr11:63535360-63537299	HepG2	liver:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
9	POLR2A	chr11:63536165-63536951	Gliobla	brain:	n/a	n/a
10	YY1	chr11:63535406-63537000	HepG2	liver:	n/a	chr11:63535736-63535747 chr11:63536245-63536259 chr11:63535716-63535727 chr11:63536409-63536423 chr11:63535842-63535856 chr11:63536853-63536862 chr11:63536521-63536535 chr11:63535789-63535803 chr11:63536713-63536727 chr11:63536360-63536371 chr11:63535833-63535847 chr11:63536850-63536859 chr11:63536245-63536254 chr11:63536913-63536927 chr11:63536910-63536924
11	MAZ	chr11:63534904-63537094	GM12878	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
12	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
13	HCFC1	chr11:63536165-63537020	Hela-S3	cervix:	n/a	n/a
14	TFAP2C	chr11:63535079-63537088	Hela-S3	cervix:	n/a	chr11:63536284-63536299
15	CTCF	chr11:63534506-63536859	A549	lung:	n/a	chr11:63536572-63536585 chr11:63535824-63535837 chr11:63536692-63536705 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63536570-63536588 chr11:63535824-63535833
16	POLR2A	chr11:63536464-63536862	HUVEC	blood vessel:	n/a	n/a
17	ZBTB7A	chr11:63536584-63536969	HepG2	liver:	n/a	chr11:63536601-63536610
18	POLR2A	chr11:63536162-63536990	PFSK-1	brain:	n/a	n/a
19	TAF1	chr11:63536397-63536874	K562	blood:	n/a	n/a
20	SIN3AK20	chr11:63536507-63536864	H1-hESC	embryonic stem cell:	n/a	n/a
21	HDAC2	chr11:63536608-63537045	K562	blood:	n/a	n/a
22	ELF1	chr11:63536667-63537110	K562	blood:	n/a	chr11:63537054-63537066 chr11:63536854-63536866
23	EGR1	chr11:63536578-63537216	K562	blood:	n/a	chr11:63536848-63536858 chr11:63536976-63536985 chr11:63537001-63537014 chr11:63536613-63536623 chr11:63536845-63536858
24	UBTF	chr11:63535801-63537077	K562	blood:	n/a	n/a
25	REST	chr11:63534517-63537808	H1-neurons	neurons:	n/a	chr11:63535702-63535712 chr11:63535771-63535781 chr11:63535790-63535803 chr11:63536356-63536366 chr11:63535815-63535828 chr11:63535778-63535791 chr11:63535775-63535788 chr11:63534588-63534606
26	FOSL1	chr11:63536792-63537139	K562	blood:	n/a	chr11:63536989-63536997 chr11:63536988-63536998 chr11:63536987-63536998 chr11:63536988-63536998
27	TAF1	chr11:63536155-63536902	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr11:63536393-63536927	PANC-1	pancreas:	n/a	n/a
29	MAX	chr11:63536169-63537031	K562	blood:	n/a	n/a
30	GABPA	chr11:63536840-63537443	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB7A	chr11:63536691-63537054	HepG2	liver:	n/a	n/a
32	MYC	chr11:63536169-63536899	K562	blood:	n/a	n/a
33	POLR2A	chr11:63536157-63537068	K562	blood:	n/a	n/a
34	TAF1	chr11:63536067-63537098	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:63534739-63537668	H1-neurons	neurons:	n/a	n/a
36	ZBTB7A	chr11:63536170-63537467	K562	blood:	n/a	chr11:63536601-63536610
37	POLR2A	chr11:63536482-63536870	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr11:63536418-63536910	HCT-116	colon:	n/a	n/a
39	POLR2A	chr11:63534650-63537159	HUVEC	blood vessel:	n/a	n/a
40	MXI1	chr11:63536688-63537604	HepG2	liver:	n/a	n/a
41	TFAP2A	chr11:63536152-63536928	Hela-S3	cervix:	n/a	chr11:63536575-63536587 chr11:63536575-63536587 chr11:63536284-63536296 chr11:63536629-63536637 chr11:63536629-63536637 chr11:63536284-63536296 chr11:63536623-63536638 chr11:63536555-63536570 chr11:63536629-63536637 chr11:63536575-63536587 chr11:63536284-63536296
42	MAX	chr11:63535546-63537659	HepG2	liver:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
43	POLR2A	chr11:63535856-63536885	Hela-S3	cervix:	n/a	n/a
44	MYC	chr11:63536785-63537091	K562	blood:	n/a	n/a
45	YY1	chr11:63536513-63537145	K562	blood:	n/a	chr11:63536853-63536862 chr11:63536521-63536535 chr11:63536713-63536727 chr11:63536850-63536859 chr11:63536913-63536927 chr11:63536910-63536924
46	POLR2A	chr11:63535914-63536945	NB4	blood:	n/a	n/a
47	POLR2A	chr11:63535599-63537062	K562	blood:	n/a	n/a
48	POLR2A	chr11:63536173-63537155	SK-N-MC	brain:	n/a	n/a
49	CTCF	chr11:63535117-63537563	SK-N-SH	brain:	n/a	chr11:63536572-63536585 chr11:63535824-63535837 chr11:63536692-63536705 chr11:63535834-63535847 chr11:63537262-63537275 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63536570-63536588 chr11:63535824-63535833
50	ZBTB7A	chr11:63536186-63537321	ECC-1	luminal epithelium:	n/a	chr11:63536601-63536610

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63536855-63536905	RPTEC	kidney:	n/a
2	chr11:63536855-63536905	AG04450	lung:	fetal
3	chr11:63536855-63536905	ECC-1	luminal epithelium:	n/a
4	chr11:63536855-63536905	GM12878	blood:	n/a
5	chr11:63536855-63536905	GM06990	blood:	n/a
6	chr11:63536855-63536905	SK-N-SH_RA	brain:	n/a
7	chr11:63536855-63536905	HCF	heart:	n/a
8	chr11:63536855-63536905	SK-N-MC	brain:	n/a
9	chr11:63536855-63536905	A549	lung:	n/a
10	chr11:63536855-63536905	HRE	kidney:	n/a
11	chr11:63536855-63536905	K562	blood:	n/a
12	chr11:63536855-63536905	NH-A	brain:	n/a
13	chr11:63536855-63536905	AG04449	skin:	fetal
14	chr11:63536855-63536905	Jurkat	blood:	n/a
15	chr11:63536855-63536905	U87	brain:	n/a
16	chr11:63536855-63536905	HNPCEpiC	eye:	n/a
17	chr11:63536855-63536905	HL-60	blood:	n/a
18	chr11:63536855-63536905	ProgFib	skin:	n/a
19	chr11:63536855-63536905	HUVEC	blood vessel:	n/a
20	chr11:63536855-63536905	BE2_C	brain:	n/a
21	chr11:63536855-63536905	MCF10A-Er-Src	breast:	n/a
22	chr11:63536855-63536905	AG09319	gingival:	n/a
23	chr11:63536855-63536905	MCF-7	breast:	n/a
24	chr11:63536855-63536905	PFSK-1	brain:	n/a
25	chr11:63536855-63536905	Hela-S3	cervix:	n/a
26	chr11:63536855-63536905	HepG2	liver:	n/a
27	chr11:63536855-63536905	HCT-116	colon:	n/a
28	chr11:63536855-63536905	BJ	skin:	n/a
29	chr11:63536855-63536905	PANC-1	pancreas:	n/a
30	chr11:63536855-63536905	NHDF-neo	bronchial:	n/a
31	chr11:63536855-63536905	NB4	blood:	n/a
32	chr11:63536855-63536905	SAEC	small airway:	n/a
33	chr11:63536855-63536905	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:63536855-63536905	HIPEpiC	eye:	n/a
35	chr11:63536855-63536905	GM12891	blood:	n/a
36	chr11:63536855-63536905	AG10803	skin:	n/a
37	chr11:63536855-63536905	Hepatocyte	liver:	n/a
38	chr11:63536855-63536905	NHBE	bronchial:	n/a
39	chr11:63536855-63536905	HEK293	kidney:	embryo
40	chr11:63536855-63536905	T-47D	breast:	n/a
41	chr11:63536855-63536905	HRPEpiC	eye:	n/a
42	chr11:63536855-63536905	HCPEpiC	choroid plexus:	n/a
43	chr11:63536855-63536905	IMR90	lung:	fetal
44	chr11:63536855-63536905	HAEpiC	amniotic membrane:	n/a
45	chr11:63536855-63536905	HEEpiC	esophagus:	n/a
46	chr11:63536855-63536905	H1-hESC	embryonic stem cell:	embryo
47	chr11:63536855-63536905	LNCaP	prostate:	n/a
48	chr11:63536855-63536905	GM12892	blood:	n/a
49	chr11:63536855-63536905	ovcar-3	ovarian:	n/a
50	chr11:63536855-63536905	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
2	chr11:63535469..63537285-chr11:63604590..63607809,3	MCF-7	breast:
3	chr11:63535590..63537125-chr11:63584534..63586620,2	MCF-7	breast:
4	chr11:63536780..63538591-chr11:63740958..63743379,2	K562	blood:
5	chr11:63529280..63533473-chr11:63536389..63539836,6	MCF-7	breast:
6	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:
7	chr11:63536456..63536965-chr21:41500878..41501548,2	MCF-7	breast:
8	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
9	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
10	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
11	chr11:63535711..63538179-chr11:63649382..63651942,2	K562	blood:
12	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
13	chr11:63536537..63538641-chr11:63540593..63542800,2	MCF-7	breast:

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000255651	TF binding region
ENSG00000255651	CpG island
C11orf95	CpG island
ENSG00000168005	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000202089	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv1821734	chr11:63533300-63537509	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3322085	chr11:63534376-63538774	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3431841	chr11:63535026-63538474	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3426231	chr11:63535201-63537749	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv1834145	chr11:63535620-63537509	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv1840819	chr11:63535620-63537509	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv10053	chr11:63535644-63536914	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63534200-63537400	Active TSS	Fetal Brain Female	brain
2	chr11:63534400-63537400	Active TSS	HSMMtube	muscle
3	chr11:63534400-63537600	Active TSS	Brain Angular Gyrus	brain
4	chr11:63534600-63537000	Active TSS	Ovary	ovary
5	chr11:63534600-63537600	Active TSS	NHDF-Ad	bronchial
6	chr11:63534800-63537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:63534800-63537000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:63534800-63537000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:63534800-63537200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:63534800-63537200	Active TSS	Fetal Intestine Large	intestine
11	chr11:63534800-63537400	Active TSS	Primary T cells from cord blood	blood
12	chr11:63534800-63537400	Active TSS	Brain Substantia Nigra	brain
13	chr11:63534800-63537400	Active TSS	Left Ventricle	heart
14	chr11:63534800-63537400	Active TSS	Lung	lung
15	chr11:63534800-63537600	Active TSS	Psoas Muscle	Psoas
16	chr11:63534800-63537600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:63534800-63537800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:63534800-63538000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:63535000-63537000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:63535000-63537000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:63535000-63537000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:63535000-63537000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:63535000-63537000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:63535000-63537000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:63535000-63537000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:63535000-63537000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:63535000-63537000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:63535000-63537000	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:63535000-63537000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:63535000-63537000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:63535000-63537000	Active TSS	Spleen	Spleen
32	chr11:63535000-63537200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:63535000-63537200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:63535000-63537200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:63535000-63537200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:63535000-63537200	Active TSS	Colon Smooth Muscle	Colon
37	chr11:63535000-63537200	Active TSS	Duodenum Mucosa	Duodenum
38	chr11:63535000-63537200	Active TSS	Esophagus	oesophagus
39	chr11:63535000-63537200	Active TSS	Small Intestine	intestine
40	chr11:63535000-63537200	Active TSS	A549	lung
41	chr11:63535000-63537200	Active TSS	NHLF	lung
42	chr11:63535000-63537400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:63535000-63537400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:63535000-63537400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:63535000-63537400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:63535000-63537400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:63535000-63537400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:63535000-63537400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:63535000-63537400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:63535000-63537400	Active TSS	Brain Anterior Caudate	brain

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