Variant report

Variant	rs6597147
Chromosome Location	chr6:5584422-5584423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1985346	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2013289	0.93[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2064109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142736	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326648	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2326649	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2326651	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960102	0.93[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4960106	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4960107	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960108	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5012511	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6597144	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6597146	0.83[EUR][1000 genomes]
rs6903542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6941763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7738509	0.80[CEU][hapmap];0.92[EUR][1000 genomes]
rs7739718	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7744153	0.81[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7744367	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7744837	0.88[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7765047	0.81[CEU][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7765256	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9328318	0.81[CEU][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9328319	0.81[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9328320	0.80[CEU][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9392084	1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9392698	1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9405276	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9405852	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9405853	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9502320	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv883420	chr6:5524393-5584422	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv600887	chr6:5545046-5694713	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016905	chr6:5566364-5639167	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5577400-5639800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5581000-5614200	Weak transcription	Lung	lung
3	chr6:5581000-5640400	Weak transcription	Gastric	stomach
4	chr6:5582000-5586600	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5582200-5595000	Weak transcription	Fetal Stomach	stomach
6	chr6:5582800-5584600	Enhancers	Fetal Heart	heart
7	chr6:5583200-5584800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:5583200-5584800	Enhancers	Brain Germinal Matrix	brain
9	chr6:5583400-5585400	Enhancers	NHDF-Ad	bronchial
10	chr6:5584000-5584600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:5584000-5584800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:5584000-5584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:5584000-5585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:5584000-5585000	Enhancers	HSMMtube	muscle
15	chr6:5584000-5585200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:5584000-5585200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:5584000-5585200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:5584000-5585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:5584000-5585200	Enhancers	Brain Substantia Nigra	brain
20	chr6:5584000-5585200	Enhancers	HSMM	muscle
21	chr6:5584200-5584600	Enhancers	Fetal Lung	lung
22	chr6:5584200-5584800	Enhancers	Fetal Brain Male	brain
23	chr6:5584200-5584800	Flanking Active TSS	Osteobl	bone
24	chr6:5584200-5585200	Enhancers	NH-A	brain
25	chr6:5584200-5585200	Enhancers	NHLF	lung
26	chr6:5584200-5585400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:5584400-5585200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr6:5584400-5585400	Enhancers	Brain Hippocampus Middle	brain

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