Variant report

Variant	rs527568563
Chromosome Location	chr11:63536705-63536706
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	CTCF	chr11:63536204-63536735	K562	blood:	n/a	chr11:63536572-63536585 chr11:63536692-63536705 chr11:63536570-63536588
2	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
3	SIN3AK20	chr11:63536131-63537036	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:63535312-63536999	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:63535895-63536843	GM15510	blood:	n/a	n/a
6	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
7	POLR2A	chr11:63536018-63536931	A549	lung:	n/a	n/a
8	CTCF	chr11:63536660-63536810	GM12869	blood:	n/a	chr11:63536692-63536705
9	SIN3A	chr11:63536294-63537618	H1-hESC	embryonic stem cell:	n/a	chr11:63536360-63536371
10	POLR2A	chr11:63536362-63536776	A549	lung:	n/a	n/a
11	MAZ	chr11:63535360-63537299	HepG2	liver:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
12	POLR2A	chr11:63536028-63536841	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:63536165-63536951	Gliobla	brain:	n/a	n/a
14	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
15	HEY1	chr11:63536455-63536803	K562	blood:	n/a	chr11:63536677-63536692
16	MAZ	chr11:63534904-63537094	GM12878	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
17	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
18	HCFC1	chr11:63536165-63537020	Hela-S3	cervix:	n/a	n/a
19	TFAP2C	chr11:63535079-63537088	Hela-S3	cervix:	n/a	chr11:63536284-63536299
20	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
21	EBF1	chr11:63536214-63536853	GM12878	blood:	n/a	chr11:63536283-63536294
22	POLR2A	chr11:63536464-63536862	HUVEC	blood vessel:	n/a	n/a
23	ZBTB7A	chr11:63536584-63536969	HepG2	liver:	n/a	chr11:63536601-63536610
24	POLR2A	chr11:63536162-63536990	PFSK-1	brain:	n/a	n/a
25	TAF1	chr11:63536476-63536849	K562	blood:	n/a	n/a
26	TAF1	chr11:63536397-63536874	K562	blood:	n/a	n/a
27	YY1	chr11:63536568-63536821	SK-N-SH_RA	brain:	n/a	chr11:63536713-63536727
28	SIN3AK20	chr11:63536507-63536864	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:63536405-63536778	GM12892	blood:	n/a	n/a
30	MAZ	chr11:63534900-63536803	Hela-S3	cervix:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
31	POLR2A	chr11:63536140-63536731	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:63536164-63536808	MCF10A-Er-Src	breast:	n/a	n/a
33	HDAC2	chr11:63536608-63537045	K562	blood:	n/a	n/a
34	ELF1	chr11:63536667-63537110	K562	blood:	n/a	chr11:63537054-63537066 chr11:63536854-63536866
35	EGR1	chr11:63536578-63537216	K562	blood:	n/a	chr11:63536848-63536858 chr11:63536976-63536985 chr11:63537001-63537014 chr11:63536613-63536623 chr11:63536845-63536858
36	POLR2A	chr11:63535913-63536847	GM12892	blood:	n/a	n/a
37	UBTF	chr11:63535801-63537077	K562	blood:	n/a	n/a
38	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
39	TAF1	chr11:63536155-63536902	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr11:63535837-63536784	Raji	blood:	n/a	n/a
41	POLR2A	chr11:63536393-63536927	PANC-1	pancreas:	n/a	n/a
42	E2F6	chr11:63536622-63536805	K562	blood:	n/a	n/a
43	MAX	chr11:63536169-63537031	K562	blood:	n/a	n/a
44	POLR2A	chr11:63536127-63536852	K562	blood:	n/a	n/a
45	MAX	chr11:63535655-63536769	Hela-S3	cervix:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
46	POLR2A	chr11:63536127-63536714	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:63536570-63536741	MCF-7	breast:	n/a	n/a
48	ZBTB7A	chr11:63536691-63537054	HepG2	liver:	n/a	n/a
49	HEY1	chr11:63536307-63536817	K562	blood:	n/a	chr11:63536677-63536692
50	POLR2A	chr11:63536537-63536728	HepG2	liver:	n/a	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	chr11:63534918..63536804-chr11:63668712..63670378,2	MCF-7	breast:
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
ENSG00000255651	TF binding region
C11orf95	TF binding region
ENSG00000188070	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000202089	Chromatin interaction
ENSG00000168005	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:123 , 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	chr11:63535000-63536800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:63535000-63536800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:63535000-63536800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr11:63535000-63537000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:63535000-63537000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:63535000-63537000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:63535000-63537000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:63535000-63537000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:63535000-63537000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:63535000-63537000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:63535000-63537000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:63535000-63537000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:63535000-63537000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr11:63535000-63537000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:63535000-63537000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:63535000-63537000	Active TSS	Spleen	Spleen
35	chr11:63535000-63537200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:63535000-63537200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:63535000-63537200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:63535000-63537200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:63535000-63537200	Active TSS	Colon Smooth Muscle	Colon
40	chr11:63535000-63537200	Active TSS	Duodenum Mucosa	Duodenum
41	chr11:63535000-63537200	Active TSS	Esophagus	oesophagus
42	chr11:63535000-63537200	Active TSS	Small Intestine	intestine
43	chr11:63535000-63537200	Active TSS	A549	lung
44	chr11:63535000-63537200	Active TSS	NHLF	lung
45	chr11:63535000-63537400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:63535000-63537400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:63535000-63537400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:63535000-63537400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:63535000-63537400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:63535000-63537400	Active TSS	HUES48 Cell Line	embryonic stem cell

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