Variant report

Variant	rs530990818
Chromosome Location	chr11:63537030-63537031
allele	C/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	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
5	CTCF	chr11:63537000-63537150	GM12874	blood:	n/a	n/a
6	SIN3A	chr11:63536294-63537618	H1-hESC	embryonic stem cell:	n/a	chr11:63536360-63536371
7	CTCF	chr11:63536900-63537050	GM12871	blood:	n/a	n/a
8	MAZ	chr11:63535360-63537299	HepG2	liver:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
9	JUND	chr11:63536945-63537059	H1-hESC	embryonic stem cell:	n/a	chr11:63536989-63536997 chr11:63536988-63536998 chr11:63536988-63536998
10	MAZ	chr11:63534904-63537094	GM12878	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
11	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
12	TFAP2C	chr11:63535079-63537088	Hela-S3	cervix:	n/a	chr11:63536284-63536299
13	CTCF	chr11:63537000-63537150	AG04449	skin:	n/a	n/a
14	HDAC2	chr11:63536608-63537045	K562	blood:	n/a	n/a
15	ELF1	chr11:63536667-63537110	K562	blood:	n/a	chr11:63537054-63537066 chr11:63536854-63536866
16	EGR1	chr11:63536578-63537216	K562	blood:	n/a	chr11:63536848-63536858 chr11:63536976-63536985 chr11:63537001-63537014 chr11:63536613-63536623 chr11:63536845-63536858
17	UBTF	chr11:63535801-63537077	K562	blood:	n/a	n/a
18	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
19	FOSL1	chr11:63536792-63537139	K562	blood:	n/a	chr11:63536989-63536997 chr11:63536988-63536998 chr11:63536987-63536998 chr11:63536988-63536998
20	JUND	chr11:63537027-63537039	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr11:63536169-63537031	K562	blood:	n/a	n/a
22	GABPA	chr11:63536840-63537443	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB7A	chr11:63536691-63537054	HepG2	liver:	n/a	n/a
24	CTCF	chr11:63536940-63537090	HRE	kidney:	n/a	n/a
25	POLR2A	chr11:63536157-63537068	K562	blood:	n/a	n/a
26	TAF1	chr11:63536067-63537098	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:63534739-63537668	H1-neurons	neurons:	n/a	n/a
28	ZBTB7A	chr11:63536170-63537467	K562	blood:	n/a	chr11:63536601-63536610
29	POLR2A	chr11:63534650-63537159	HUVEC	blood vessel:	n/a	n/a
30	MXI1	chr11:63536688-63537604	HepG2	liver:	n/a	n/a
31	CTCF	chr11:63536960-63537110	SAEC	small airway:	n/a	n/a
32	MAX	chr11:63535546-63537659	HepG2	liver:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
33	MYC	chr11:63536785-63537091	K562	blood:	n/a	n/a
34	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
35	POLR2A	chr11:63535599-63537062	K562	blood:	n/a	n/a
36	POLR2A	chr11:63536173-63537155	SK-N-MC	brain:	n/a	n/a
37	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
38	ZBTB7A	chr11:63536186-63537321	ECC-1	luminal epithelium:	n/a	chr11:63536601-63536610
39	YY1	chr11:63536552-63537034	K562	blood:	n/a	chr11:63536853-63536862 chr11:63536713-63536727 chr11:63536850-63536859 chr11:63536913-63536927 chr11:63536910-63536924
40	ZBTB7A	chr11:63534995-63537329	K562	blood:	n/a	chr11:63536601-63536610 chr11:63535627-63535634
41	MAX	chr11:63534779-63537214	K562	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
42	ZBTB7A	chr11:63534933-63537374	ECC-1	luminal epithelium:	n/a	chr11:63536601-63536610 chr11:63535627-63535634
43	POLR2A	chr11:63535703-63537134	K562	blood:	n/a	n/a
44	E2F6	chr11:63536831-63537051	K562	blood:	n/a	chr11:63536851-63536861 chr11:63537001-63537011
45	JUND	chr11:63536780-63537165	K562	blood:	n/a	chr11:63536989-63536997 chr11:63536988-63536998 chr11:63536988-63536998
46	POLR2A	chr11:63535608-63537728	H1-neurons	neurons:	n/a	n/a
47	UBTF	chr11:63536349-63537123	K562	blood:	n/a	n/a
48	SMARCB1	chr11:63536262-63537171	Hela-S3	cervix:	n/a	chr11:63536988-63536997
49	GABPA	chr11:63536663-63537057	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAZ	chr11:63534899-63537225	K562	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847

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	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
8	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
9	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
10	chr11:63535711..63538179-chr11:63649382..63651942,2	K562	blood:
11	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
12	chr11:63536537..63538641-chr11:63540593..63542800,2	MCF-7	breast:
13	chr11:63536948..63539321-chr11:63636062..63638062,2	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

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	chr11:63534600-63537600	Active TSS	NHDF-Ad	bronchial
5	chr11:63534800-63537200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:63534800-63537200	Active TSS	Fetal Intestine Large	intestine
7	chr11:63534800-63537400	Active TSS	Primary T cells from cord blood	blood
8	chr11:63534800-63537400	Active TSS	Brain Substantia Nigra	brain
9	chr11:63534800-63537400	Active TSS	Left Ventricle	heart
10	chr11:63534800-63537400	Active TSS	Lung	lung
11	chr11:63534800-63537600	Active TSS	Psoas Muscle	Psoas
12	chr11:63534800-63537600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr11:63534800-63537800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:63534800-63538000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:63535000-63537200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:63535000-63537200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:63535000-63537200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:63535000-63537200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:63535000-63537200	Active TSS	Colon Smooth Muscle	Colon
20	chr11:63535000-63537200	Active TSS	Duodenum Mucosa	Duodenum
21	chr11:63535000-63537200	Active TSS	Esophagus	oesophagus
22	chr11:63535000-63537200	Active TSS	Small Intestine	intestine
23	chr11:63535000-63537200	Active TSS	A549	lung
24	chr11:63535000-63537200	Active TSS	NHLF	lung
25	chr11:63535000-63537400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:63535000-63537400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63535000-63537400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:63535000-63537400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:63535000-63537400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:63535000-63537400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:63535000-63537400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:63535000-63537400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:63535000-63537400	Active TSS	Brain Anterior Caudate	brain
34	chr11:63535000-63537400	Active TSS	Rectal Smooth Muscle	rectum
35	chr11:63535000-63537400	Active TSS	Hela-S3	cervix
36	chr11:63535000-63537400	Active TSS	K562	blood
37	chr11:63535000-63537400	Active TSS	Osteobl	bone
38	chr11:63535000-63537600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:63535000-63537600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:63535000-63537600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:63535000-63537600	Active TSS	Aorta	Aorta
42	chr11:63535000-63537600	Active TSS	Gastric	stomach
43	chr11:63535000-63537600	Active TSS	Pancreas	Pancrea
44	chr11:63535000-63537600	Active TSS	Right Atrium	heart
45	chr11:63535000-63537600	Active TSS	Right Ventricle	heart
46	chr11:63535200-63537200	Active TSS	NH-A	brain
47	chr11:63535200-63537600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr11:63535200-63537600	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:63535400-63537200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:63535400-63537200	Active TSS	Skeletal Muscle Female	skeletal muscle

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