Variant report

Variant	rs2653617
Chromosome Location	chr11:8886118-8886119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8885722..8888540-chr11:9189607..9191630,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10743099	0.88[JPT][hapmap]
rs11042113	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs1432117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1432118	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2116513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2163627	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2436176	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2568040	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2568048	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2568067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2568073	0.88[ASN][1000 genomes]
rs2568076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[ASN][1000 genomes]
rs2568090	0.80[YRI][hapmap]
rs2653572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2653599	0.93[ASN][1000 genomes]
rs2742492	0.84[ASN][1000 genomes]
rs2742506	0.88[ASN][1000 genomes]
rs2742509	0.88[ASN][1000 genomes]
rs2742522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4910179	0.86[ASN][1000 genomes]
rs56947653	0.93[ASN][1000 genomes]
rs7108116	0.88[JPT][hapmap]
rs7125458	0.86[JPT][hapmap]
rs891787	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8862400-8888400	Weak transcription	Right Atrium	heart
2	chr11:8863200-8890400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:8864000-8888000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:8877400-8888600	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:8877400-8888600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:8878200-8891800	Weak transcription	Psoas Muscle	Psoas
7	chr11:8880200-8892000	Weak transcription	Gastric	stomach
8	chr11:8880400-8888000	Weak transcription	Stomach Mucosa	stomach
9	chr11:8880400-8888200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:8880400-8889200	Weak transcription	Lung	lung
11	chr11:8881400-8888200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:8884200-8887200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:8884200-8887200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:8884200-8887800	Enhancers	Hela-S3	cervix
15	chr11:8884200-8889600	Enhancers	NHDF-Ad	bronchial
16	chr11:8884400-8886200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:8884400-8889000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:8884400-8891800	Weak transcription	Left Ventricle	heart
19	chr11:8885000-8886200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:8885000-8886200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:8885000-8886200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:8885000-8886200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:8885000-8886200	Enhancers	Placenta	Placenta
24	chr11:8885000-8886400	Enhancers	Osteobl	bone
25	chr11:8885000-8886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:8885000-8887200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:8885000-8888200	Enhancers	NHLF	lung
28	chr11:8885200-8886200	Enhancers	NH-A	brain
29	chr11:8885200-8887400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:8885200-8889000	Enhancers	HUVEC	blood vessel
31	chr11:8885600-8886600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:8885600-8886600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:8885600-8888000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:8885600-8891400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:8885600-8891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:8885800-8886200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:8885800-8887000	Weak transcription	Fetal Lung	lung
38	chr11:8885800-8887200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:8885800-8888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:8885800-8888400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:8885800-8888400	Weak transcription	A549	lung
42	chr11:8885800-8889600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:8885800-8889800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:8885800-8889800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:8885800-8891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:8885800-8891400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:8885800-8891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:8885800-8891800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:8886000-8886600	Enhancers	Fetal Stomach	stomach
50	chr11:8886000-8888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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