Variant report

Variant	rs11567693
Chromosome Location	chr5:35857466-35857467
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10058723	1.00[CHB][hapmap]
rs10064778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065462	1.00[ASN][1000 genomes]
rs10078972	1.00[ASN][1000 genomes]
rs10079517	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11567757	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739191	1.00[ASN][1000 genomes]
rs11951270	1.00[CHB][hapmap]
rs11953960	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11954524	1.00[CHB][hapmap]
rs11958548	1.00[CHB][hapmap]
rs2277042	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2277044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4346794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4361544	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4361545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6451224	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6860528	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6860903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873241	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6880287	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881747	1.00[CHB][hapmap]
rs6889625	1.00[ASN][1000 genomes]
rs6890572	1.00[ASN][1000 genomes]
rs7700501	1.00[CHB][hapmap]
rs7700688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7702340	1.00[EUR][1000 genomes]
rs7703463	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7730148	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881055	chr5:35850693-35858721	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv881685	chr5:35850693-35859863	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv881358	chr5:35850693-35861068	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880610	chr5:35850693-35866265	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv880517	chr5:35850693-35870814	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv597813	chr5:35855264-35864590	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv597814	chr5:35855410-35859002	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv881045	chr5:35856575-35861068	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35852400-35859200	Weak transcription	Lung	lung
2	chr5:35852400-35862800	Enhancers	Hela-S3	cervix
3	chr5:35853800-35858000	Enhancers	GM12878-XiMat	blood
4	chr5:35854200-35857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:35854800-35857800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:35855400-35862400	Enhancers	HSMMtube	muscle
7	chr5:35856200-35859800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:35856400-35858200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:35856400-35858400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:35856400-35858400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:35856400-35858800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:35856400-35859000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr5:35856600-35858000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr5:35856600-35859000	Active TSS	Primary T cells from cord blood	blood
15	chr5:35856600-35859000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr5:35856600-35860400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:35856800-35857600	Flanking Active TSS	HSMM	muscle
18	chr5:35856800-35858000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:35856800-35858000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr5:35856800-35858000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:35856800-35858000	Flanking Active TSS	HMEC	breast
22	chr5:35856800-35858000	Flanking Active TSS	NHDF-Ad	bronchial
23	chr5:35856800-35858000	Flanking Active TSS	Osteobl	bone
24	chr5:35856800-35858400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:35856800-35858800	Active TSS	Primary T cells fromperipheralblood	blood
26	chr5:35856800-35859200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:35856800-35859400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:35857000-35857600	Weak transcription	A549	lung
29	chr5:35857000-35857800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:35857000-35857800	Active TSS	Dnd41	blood
31	chr5:35857000-35858000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:35857000-35858000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:35857000-35858000	Flanking Active TSS	NHEK	skin
34	chr5:35857000-35858200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:35857000-35858200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:35857000-35858800	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr5:35857000-35859000	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr5:35857000-35859000	Active TSS	NHLF	lung
39	chr5:35857000-35859400	Active TSS	Fetal Thymus	thymus
40	chr5:35857000-35859600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr5:35857000-35860600	Active TSS	Duodenum Mucosa	Duodenum
42	chr5:35857000-35860800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:35857000-35861000	Active TSS	Thymus	Thymus
44	chr5:35857000-35861200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr5:35857000-35861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:35857000-35861800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:35857200-35857600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:35857200-35857800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:35857200-35858000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:35857200-35858000	Active TSS	Small Intestine	intestine

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