Variant report

Variant	rs670140
Chromosome Location	chr11:107683197-107683198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2509485	0.83[EUR][1000 genomes]
rs2509486	0.83[EUR][1000 genomes]
rs2847189	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs510622	0.83[EUR][1000 genomes]
rs523601	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs523608	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs539178	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs553924	0.83[EUR][1000 genomes]
rs558952	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs569545	0.80[EUR][1000 genomes]
rs570503	0.81[EUR][1000 genomes]
rs572219	0.82[EUR][1000 genomes]
rs607506	0.82[AFR][1000 genomes]
rs614473	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs656220	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv556381	chr11:107644296-107684371	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv468867	chr11:107649026-107697633	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv556382	chr11:107649026-107697633	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1035229	chr11:107653731-107717190	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107661000-107693200	Weak transcription	Spleen	Spleen
2	chr11:107661800-107685800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:107661800-107691800	Weak transcription	Esophagus	oesophagus
4	chr11:107662400-107686400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:107662800-107683800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:107663000-107683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:107663000-107683600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:107663200-107684200	Weak transcription	HepG2	liver
9	chr11:107663200-107690200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:107664600-107683800	Weak transcription	Stomach Mucosa	stomach
11	chr11:107664600-107686000	Weak transcription	Gastric	stomach
12	chr11:107670800-107685000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:107671600-107685000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:107671600-107685800	Weak transcription	HSMM	muscle
15	chr11:107671600-107686200	Weak transcription	NHDF-Ad	bronchial
16	chr11:107672000-107697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:107672800-107687800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:107673000-107683200	Strong transcription	HUVEC	blood vessel
19	chr11:107673400-107727800	Weak transcription	Primary B cells from cord blood	blood
20	chr11:107673600-107689800	Weak transcription	HMEC	breast
21	chr11:107674400-107691800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:107676200-107684600	Strong transcription	GM12878-XiMat	blood
23	chr11:107676200-107684800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:107676400-107690000	Weak transcription	A549	lung
25	chr11:107676400-107694200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:107676800-107684000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:107677800-107683600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:107677800-107686200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:107677800-107689600	Weak transcription	NH-A	brain
30	chr11:107677800-107691800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:107678200-107684800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:107679000-107687600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:107679000-107691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:107679000-107696400	Weak transcription	Lung	lung
35	chr11:107679200-107685000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:107679600-107685800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:107679600-107691800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:107680000-107687400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:107681000-107683600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:107681000-107684200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:107681000-107684400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:107681000-107687200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:107681400-107685600	Weak transcription	Fetal Intestine Small	intestine
44	chr11:107681400-107686200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:107682200-107686000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:107682400-107683400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:107682400-107684200	Weak transcription	K562	blood
48	chr11:107682400-107684800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:107682600-107684200	Weak transcription	NHEK	skin
50	chr11:107682600-107684400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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