Variant report

Variant	rs7941976
Chromosome Location	chr11:5655150-5655151
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1160699	1.00[ASN][1000 genomes]
rs12226152	0.92[YRI][hapmap]
rs12278387	1.00[CHB][hapmap]
rs17304278	1.00[CHB][hapmap]
rs2342381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892472	1.00[ASN][1000 genomes]
rs7127863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv896947	chr11:5631972-5659680	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5655200	Weak transcription	Fetal Thymus	thymus
2	chr11:5647000-5655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:5647000-5666800	Weak transcription	Fetal Brain Male	brain
4	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
5	chr11:5647200-5655600	Weak transcription	NHLF	lung
6	chr11:5647400-5655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:5647400-5663000	Weak transcription	Aorta	Aorta
8	chr11:5647400-5663000	Weak transcription	Gastric	stomach
9	chr11:5647400-5663000	Weak transcription	Thymus	Thymus
10	chr11:5647400-5663400	Weak transcription	Esophagus	oesophagus
11	chr11:5647400-5664600	Weak transcription	Fetal Kidney	kidney
12	chr11:5647400-5667200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:5647400-5669400	Weak transcription	Right Ventricle	heart
14	chr11:5647400-5675600	Weak transcription	Pancreas	Pancrea
15	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:5647600-5656000	Weak transcription	Osteobl	bone
17	chr11:5647600-5657600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:5647600-5662000	Weak transcription	NHDF-Ad	bronchial
19	chr11:5647600-5665600	Weak transcription	Stomach Mucosa	stomach
20	chr11:5647600-5665800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:5647600-5668000	Weak transcription	A549	lung
22	chr11:5647800-5656000	Weak transcription	Fetal Intestine Small	intestine
23	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:5648000-5657400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:5648200-5655800	Weak transcription	Spleen	Spleen
26	chr11:5648400-5663200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:5648800-5660000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:5649200-5662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:5653200-5665400	Strong transcription	Primary T cells from cord blood	blood
31	chr11:5653400-5656000	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:5653400-5656800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:5653400-5657600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:5653400-5658200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:5653400-5659800	Strong transcription	Placenta	Placenta
36	chr11:5653600-5656200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:5653600-5656400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:5653600-5656400	Strong transcription	Fetal Lung	lung
39	chr11:5653600-5656800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:5653600-5656800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:5653600-5656800	Strong transcription	Fetal Stomach	stomach
42	chr11:5653600-5656800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:5653600-5657600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:5653600-5658800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:5653600-5660000	Strong transcription	Adipose Nuclei	Adipose
46	chr11:5653600-5665800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:5653800-5658000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:5654000-5665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:5654000-5666000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:5654000-5666000	Strong transcription	Primary B cells from cord blood	blood

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