Variant report

Variant	rs11567699
Chromosome Location	chr5:35859011-35859012
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10491434	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10491435	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1053496	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11567685	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11567701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11567751	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11949736	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11950763	0.81[EUR][1000 genomes]
rs11958811	0.81[EUR][1000 genomes]
rs11960511	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1382347	1.00[JPT][hapmap]
rs1494554	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1494571	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1603071	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16902573	0.83[EUR][1000 genomes]
rs17376481	1.00[JPT][hapmap]
rs1833907	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2287900	0.83[EUR][1000 genomes]
rs2361395	0.81[EUR][1000 genomes]
rs3194051	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3822733	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55654952	0.83[EUR][1000 genomes]
rs56123112	0.82[EUR][1000 genomes]
rs56133736	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57217480	0.82[EUR][1000 genomes]
rs57545288	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57804084	0.81[EUR][1000 genomes]
rs62351973	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62353742	0.80[EUR][1000 genomes]
rs62355269	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62355271	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62355272	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67207043	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6871116	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs6872631	0.85[CEU][hapmap]
rs6893803	0.85[CEU][hapmap]
rs700179	0.86[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7702828	0.82[EUR][1000 genomes]
rs7705615	0.83[EUR][1000 genomes]
rs7718034	0.81[EUR][1000 genomes]
rs7733008	0.82[EUR][1000 genomes]
rs9292614	0.84[CEU][hapmap];0.95[TSI][hapmap]
rs9764914	0.83[EUR][1000 genomes]
rs987107	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs990716	0.88[CEU][hapmap];0.84[GIH][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	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
7	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:68 , 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	chr5:35855400-35862400	Enhancers	HSMMtube	muscle
4	chr5:35856200-35859800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:35856600-35860400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:35856800-35859200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:35856800-35859400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:35857000-35859400	Active TSS	Fetal Thymus	thymus
9	chr5:35857000-35859600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr5:35857000-35860600	Active TSS	Duodenum Mucosa	Duodenum
11	chr5:35857000-35860800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:35857000-35861000	Active TSS	Thymus	Thymus
13	chr5:35857000-35861200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:35857000-35861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:35857000-35861800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:35857200-35860000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
17	chr5:35857400-35869200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr5:35857600-35860800	Active TSS	Primary B cells from cord blood	blood
19	chr5:35857800-35866600	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr5:35858000-35859200	Weak transcription	Esophagus	oesophagus
21	chr5:35858000-35859400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:35858000-35859800	Enhancers	HUVEC	blood vessel
23	chr5:35858000-35860000	Enhancers	HMEC	breast
24	chr5:35858000-35860000	Enhancers	NHEK	skin
25	chr5:35858000-35860200	Enhancers	NH-A	brain
26	chr5:35858000-35862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:35858000-35862600	Enhancers	NHDF-Ad	bronchial
28	chr5:35858200-35859400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:35858200-35859800	Flanking Active TSS	Osteobl	bone
30	chr5:35858200-35861600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:35858200-35863200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:35858200-35864800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:35858400-35859200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:35858800-35859200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:35858800-35859600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:35858800-35859800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:35858800-35860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:35858800-35860200	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
39	chr5:35858800-35860400	Active TSS	Small Intestine	intestine
40	chr5:35858800-35862600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:35858800-35864800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:35858800-35865000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:35858800-35865400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:35858800-35866600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
45	chr5:35859000-35859400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:35859000-35859600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:35859000-35859600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:35859000-35859600	Flanking Active TSS	HSMM	muscle
49	chr5:35859000-35859800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:35859000-35859800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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