Variant report

Variant	rs2653615
Chromosome Location	chr11:8884472-8884473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10840149	1.00[EUR][1000 genomes]
rs11042155	1.00[EUR][1000 genomes]
rs1989143	1.00[EUR][1000 genomes]
rs2195812	1.00[EUR][1000 genomes]
rs2256067	0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2262323	1.00[EUR][1000 genomes]
rs2436178	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568021	1.00[EUR][1000 genomes]
rs2568023	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2568024	1.00[EUR][1000 genomes]
rs2568026	1.00[EUR][1000 genomes]
rs2568027	1.00[EUR][1000 genomes]
rs2568028	0.87[AMR][1000 genomes]
rs2568030	0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs2568041	1.00[EUR][1000 genomes]
rs2568051	0.86[YRI][hapmap]
rs2568055	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568058	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568060	0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568072	1.00[EUR][1000 genomes]
rs2568083	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs2653561	1.00[EUR][1000 genomes]
rs2653563	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs2653571	1.00[EUR][1000 genomes]
rs2653583	1.00[EUR][1000 genomes]
rs2653584	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs2653585	1.00[EUR][1000 genomes]
rs2653600	1.00[EUR][1000 genomes]
rs2653608	1.00[EUR][1000 genomes]
rs2653614	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742469	1.00[EUR][1000 genomes]
rs2742479	1.00[EUR][1000 genomes]
rs2742482	1.00[EUR][1000 genomes]
rs2742507	1.00[EUR][1000 genomes]
rs2742508	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2742518	1.00[EUR][1000 genomes]
rs2742526	1.00[EUR][1000 genomes]
rs2742527	1.00[EUR][1000 genomes]
rs2742539	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742543	0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2742551	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6416158	1.00[EUR][1000 genomes]
rs6416159	1.00[EUR][1000 genomes]
rs7104415	1.00[EUR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	1.00[EUR][1000 genomes]
rs7396042	1.00[EUR][1000 genomes]
rs7396427	1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7932678	1.00[EUR][1000 genomes]
rs7936297	1.00[EUR][1000 genomes]
rs7947427	1.00[AMR][1000 genomes]
rs7950826	1.00[EUR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8862400-8885000	Weak transcription	NHLF	lung
2	chr11:8862400-8888400	Weak transcription	Right Atrium	heart
3	chr11:8862600-8885200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:8863200-8890400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:8864000-8888000	Weak transcription	Fetal Intestine Small	intestine
6	chr11:8865800-8886000	Weak transcription	Fetal Stomach	stomach
7	chr11:8873200-8885000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:8874600-8885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:8877400-8888600	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:8877400-8888600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:8878200-8891800	Weak transcription	Psoas Muscle	Psoas
12	chr11:8879400-8885600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:8880200-8892000	Weak transcription	Gastric	stomach
14	chr11:8880400-8885800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:8880400-8888000	Weak transcription	Stomach Mucosa	stomach
16	chr11:8880400-8888200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:8880400-8889200	Weak transcription	Lung	lung
18	chr11:8880600-8885000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:8880800-8885000	Weak transcription	Placenta	Placenta
20	chr11:8881400-8888200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:8881600-8885000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:8881600-8885000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:8882200-8885000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:8883200-8885400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:8884000-8884600	Enhancers	Spleen	Spleen
26	chr11:8884000-8884800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:8884200-8887200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:8884200-8887200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:8884200-8887800	Enhancers	Hela-S3	cervix
30	chr11:8884200-8889600	Enhancers	NHDF-Ad	bronchial
31	chr11:8884400-8884600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:8884400-8885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:8884400-8885400	Weak transcription	Ovary	ovary
34	chr11:8884400-8885400	Weak transcription	Small Intestine	intestine
35	chr11:8884400-8885600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:8884400-8885800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:8884400-8885800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:8884400-8885800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:8884400-8886200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:8884400-8889000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:8884400-8891800	Weak transcription	Left Ventricle	heart

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