Variant report

Variant	rs4635085
Chromosome Location	chr11:64059680-64059681
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	SUZ12	chr11:64058028-64060943	NT2-D1	testis:	n/a	n/a
2	EGR1	chr11:64059286-64059750	K562	blood:	n/a	chr11:64059637-64059647 chr11:64059548-64059558 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705 chr11:64059501-64059523 chr11:64059348-64059358
3	PAX5	chr11:64059219-64059752	GM12892	blood:	n/a	chr11:64059392-64059411
4	EGR1	chr11:64059559-64059739	GM12878	blood:	n/a	chr11:64059637-64059647 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705
5	SUZ12	chr11:64058751-64061073	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr11:64059482-64059869	ECC-1	luminal epithelium:	n/a	chr11:64059637-64059647 chr11:64059548-64059558 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705 chr11:64059501-64059523
7	CTBP2	chr11:64058361-64059911	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr11:64058325-64060172	SK-N-SH	brain:	n/a	n/a
9	BACH1	chr11:64059313-64059703	H1-hESC	embryonic stem cell:	n/a	n/a
10	BHLHE40	chr11:64059512-64059782	GM12878	blood:	n/a	chr11:64059701-64059717
11	REST	chr11:64059157-64059995	H1-neurons	neurons:	n/a	chr11:64059816-64059829 chr11:64059881-64059894
12	MXI1	chr11:64059169-64059899	IMR90	lung:	n/a	n/a
13	POLR2A	chr11:64058881-64059938	H1-neurons	neurons:	n/a	n/a
14	EBF1	chr11:64059419-64059766	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64058882-64060134	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
2	chr11:64033188..64045448-chr11:64059274..64075790,38	MCF-7	breast:
3	chr11:64058435..64061008-chr11:64080225..64081908,2	K562	blood:

Variant related genes	Relation type
ENSG00000207024	TF binding region
KCNK4	TF binding region
ENSG00000173511	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000173264	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
11	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	212 gene(s)	inside rSNPs	diseases
13	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
16	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
18	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer 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 miRNA target site	179 gene(s)	inside rSNPs	diseases
19	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
20	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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	140 gene(s)	inside rSNPs	diseases
21	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
22	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
23	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
25	nsv897684	chr11:64047360-64060976	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
27	nsv897686	chr11:64049021-64072244	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	nsv897687	chr11:64049021-64078380	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
29	esv3399639	chr11:64057076-64061574	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
30	esv3395260	chr11:64058601-64061149	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64058200-64060200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:64058200-64061600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:64058400-64060000	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr11:64058400-64060200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:64058400-64060400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:64058400-64060600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:64058600-64059800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:64058600-64059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:64058600-64060200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:64058600-64060200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:64058600-64060200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:64058600-64060400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr11:64058600-64063200	Weak transcription	Hela-S3	cervix
14	chr11:64058800-64060000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:64058800-64060000	Bivalent Enhancer	Primary B cells from cord blood	blood
16	chr11:64058800-64060000	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr11:64058800-64060000	Flanking Active TSS	Right Ventricle	heart
18	chr11:64058800-64060000	Enhancers	Spleen	Spleen
19	chr11:64058800-64060200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr11:64058800-64060200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:64058800-64060200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:64058800-64060200	Enhancers	Liver	Liver
23	chr11:64058800-64060200	Enhancers	Pancreas	Pancrea
24	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr11:64058800-64060400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:64058800-64060400	Active TSS	Brain Angular Gyrus	brain
29	chr11:64058800-64060400	Active TSS	Brain Anterior Caudate	brain
30	chr11:64058800-64060400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:64059000-64059800	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:64059000-64059800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr11:64059000-64059800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:64059000-64059800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
35	chr11:64059000-64060000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:64059000-64060000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr11:64059000-64060200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:64059000-64060200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr11:64059000-64060200	Bivalent/Poised TSS	HepG2	liver
40	chr11:64059000-64060400	Bivalent Enhancer	Placenta	Placenta
41	chr11:64059200-64059800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:64059200-64059800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
43	chr11:64059200-64059800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr11:64059200-64059800	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr11:64059200-64059800	Bivalent/Poised TSS	Osteobl	bone
46	chr11:64059200-64060000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:64059200-64060000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:64059200-64060000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:64059200-64060000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr11:64059200-64060000	Bivalent/Poised TSS	HSMM	muscle

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