Variant report

Variant	rs570685
Chromosome Location	chr11:104903984-104903985
allele	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	CUX1	chr11:104903977-104904177	GM12878	blood:	n/a	n/a
2	JUN	chr11:104903882-104904183	K562	blood:	n/a	n/a

Variant related genes	Relation type
CASP1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10502045	0.97[ASN][1000 genomes]
rs10895756	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10895757	0.95[ASN][1000 genomes]
rs10895760	0.86[ASN][1000 genomes]
rs10895762	0.97[ASN][1000 genomes]
rs10895763	0.97[ASN][1000 genomes]
rs11226586	0.95[ASN][1000 genomes]
rs11226589	0.84[ASN][1000 genomes]
rs11821722	0.92[ASN][1000 genomes]
rs12286163	0.95[ASN][1000 genomes]
rs1790203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1977989	0.97[ASN][1000 genomes]
rs2282657	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2282658	0.86[AFR][1000 genomes]
rs2282659	0.97[ASN][1000 genomes]
rs3181318	0.85[AFR][1000 genomes]
rs507879	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs516095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs526118	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs530537	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61890849	0.97[ASN][1000 genomes]
rs9326349	0.97[ASN][1000 genomes]
rs966178	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv468863	chr11:104875261-104918517	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv556219	chr11:104875261-104918517	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104894200-104904200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:104894200-104905600	Weak transcription	Esophagus	oesophagus
3	chr11:104895000-104904200	Weak transcription	Psoas Muscle	Psoas
4	chr11:104895800-104904200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:104896000-104904200	Weak transcription	NHDF-Ad	bronchial
6	chr11:104896400-104904000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:104897800-104905600	Weak transcription	Ovary	ovary
8	chr11:104899200-104905400	Weak transcription	Aorta	Aorta
9	chr11:104899400-104905400	Weak transcription	Fetal Brain Male	brain
10	chr11:104899400-104905600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:104899600-104905200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:104899600-104909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:104899800-104904200	Weak transcription	Fetal Thymus	thymus
14	chr11:104899800-104905000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:104900200-104904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:104900600-104904200	Weak transcription	Pancreas	Pancrea
17	chr11:104900800-104904200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:104901200-104904000	Weak transcription	Colonic Mucosa	Colon
19	chr11:104901400-104904000	Weak transcription	HMEC	breast
20	chr11:104901600-104904000	Weak transcription	Fetal Lung	lung
21	chr11:104901600-104904600	Weak transcription	Placenta	Placenta
22	chr11:104901600-104905000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:104902000-104904000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:104902000-104904000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:104902000-104905400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:104902200-104904000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:104902200-104904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:104902200-104904000	Weak transcription	Liver	Liver
29	chr11:104902200-104904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:104902200-104904200	Weak transcription	Left Ventricle	heart
31	chr11:104902200-104904200	Weak transcription	Lung	lung
32	chr11:104902200-104906800	Weak transcription	Gastric	stomach
33	chr11:104902400-104904000	Active TSS	Duodenum Mucosa	Duodenum
34	chr11:104903000-104904400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:104903000-104906000	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr11:104903000-104906000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:104903200-104904000	Active TSS	Primary hematopoietic stem cells	blood
38	chr11:104903200-104904000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:104903200-104904200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:104903200-104904400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr11:104903200-104904400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr11:104903200-104904600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:104903200-104904800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr11:104903200-104905000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:104903200-104906200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:104903200-104906200	Flanking Active TSS	Dnd41	blood
47	chr11:104903200-104906400	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:104903400-104904000	Active TSS	Fetal Intestine Large	intestine
49	chr11:104903400-104904000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:104903400-104904000	Active TSS	NHEK	skin

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