Variant report

Variant	rs6795523
Chromosome Location	chr3:118688394-118688395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10212391	0.83[YRI][hapmap];0.96[AFR][1000 genomes]
rs10488303	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923277	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12491204	0.82[CHB][hapmap]
rs16829165	0.84[AFR][1000 genomes]
rs16829203	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16829206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16829250	0.84[CHD][hapmap];1.00[GIH][hapmap]
rs17491031	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2160054	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs2866319	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes]
rs41330049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41414745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41523948	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4611809	0.88[AFR][1000 genomes]
rs56314531	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6785161	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72966889	0.86[AFR][1000 genomes]
rs72968610	0.85[AFR][1000 genomes]
rs7629089	0.83[AFR][1000 genomes]
rs7633584	0.84[LWK][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs7644623	0.92[ASW][hapmap];0.87[GIH][hapmap];0.89[LWK][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes]
rs9817851	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9817943	0.85[AFR][1000 genomes]
rs9834188	0.91[AFR][1000 genomes]
rs9836742	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9837571	0.81[ASW][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.82[AFR][1000 genomes]
rs9847272	0.86[LWK][hapmap];0.81[MKK][hapmap];0.84[AFR][1000 genomes]
rs9854240	0.96[AFR][1000 genomes]
rs9860173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9861721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9867214	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs9874337	0.83[AFR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv877369	chr3:118681771-118824418	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr3:118681200-118694000	Enhancers	Brain Substantia Nigra	brain
2	chr3:118681400-118690000	Enhancers	Brain Hippocampus Middle	brain
3	chr3:118681800-118692800	Enhancers	Brain Anterior Caudate	brain
4	chr3:118683400-118696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:118683800-118689000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:118684400-118690000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:118684600-118690200	Enhancers	Brain Cingulate Gyrus	brain
8	chr3:118684800-118690200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:118684800-118694000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:118685000-118688800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:118685000-118690000	Enhancers	Brain Angular Gyrus	brain
12	chr3:118685400-118689400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:118685800-118688400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:118686200-118689000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:118686600-118690200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:118687000-118690000	Enhancers	Stomach Smooth Muscle	stomach
17	chr3:118687200-118690200	Enhancers	Fetal Heart	heart
18	chr3:118687400-118691800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:118687400-118691800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:118687600-118689000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:118687800-118688800	Enhancers	Right Atrium	heart
22	chr3:118687800-118690400	Enhancers	Brain Germinal Matrix	brain
23	chr3:118688200-118688400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:118688200-118688400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:118688200-118689000	Enhancers	Ovary	ovary
26	chr3:118688200-118689000	Enhancers	Psoas Muscle	Psoas
27	chr3:118688200-118689200	Enhancers	Left Ventricle	heart
28	chr3:118688200-118689400	Enhancers	Skeletal Muscle Female	skeletal muscle

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