Variant report

Variant	rs576516
Chromosome Location	chr6:71569090-71569091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2038477	0.85[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.83[MKK][hapmap];0.83[EUR][1000 genomes]
rs2460692	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2460699	1.00[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]
rs2474914	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2474915	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2474916	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2504748	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.84[ASN][1000 genomes]
rs2504749	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504750	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504752	0.81[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2504753	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3734371	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3734372	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs483894	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs746121	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs781977	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71506800-71570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:71531200-71571000	Weak transcription	Stomach Mucosa	stomach
3	chr6:71537600-71574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:71544400-71569800	Weak transcription	Placenta	Placenta
5	chr6:71545400-71572200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:71549200-71570000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:71549800-71573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:71550000-71575400	Weak transcription	Ovary	ovary
9	chr6:71550600-71573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:71551000-71571400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:71551200-71570200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:71551200-71570400	Weak transcription	Fetal Brain Female	brain
13	chr6:71552400-71574200	Weak transcription	HSMM	muscle
14	chr6:71554400-71572800	Weak transcription	Thymus	Thymus
15	chr6:71554400-71572800	Weak transcription	Osteobl	bone
16	chr6:71554400-71574400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:71554600-71572800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:71555600-71570200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:71556200-71570400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:71556600-71571400	Weak transcription	Psoas Muscle	Psoas
21	chr6:71556600-71574400	Weak transcription	Fetal Intestine Small	intestine
22	chr6:71557000-71572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:71557200-71569600	Weak transcription	Fetal Brain Male	brain
24	chr6:71557200-71572200	Weak transcription	Fetal Heart	heart
25	chr6:71557600-71569800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:71557600-71570000	Weak transcription	Small Intestine	intestine
27	chr6:71557800-71569800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:71558800-71575000	Weak transcription	HUVEC	blood vessel
29	chr6:71559000-71569800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:71559000-71573800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:71559400-71573800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:71560600-71574200	Weak transcription	Brain Germinal Matrix	brain
33	chr6:71560800-71570000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:71561000-71569800	Weak transcription	Fetal Lung	lung
35	chr6:71561200-71569800	Weak transcription	NHLF	lung
36	chr6:71561200-71573000	Weak transcription	Brain Anterior Caudate	brain
37	chr6:71561200-71573400	Weak transcription	HMEC	breast
38	chr6:71561600-71574000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:71563400-71573600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:71563800-71571600	Weak transcription	HepG2	liver
41	chr6:71564000-71570000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:71564000-71570400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:71564000-71575800	Weak transcription	Right Ventricle	heart
44	chr6:71564400-71573000	Weak transcription	Spleen	Spleen
45	chr6:71564800-71572200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:71564800-71573000	Weak transcription	NH-A	brain
47	chr6:71566200-71570400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr6:71566200-71571600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr6:71566200-71572200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:71566400-71574200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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