Variant report

Variant	rs10104209
Chromosome Location	chr8:4189745-4189746
allele	C/G
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:27)

rs_ID	r²[population]
rs10086105	0.89[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10091031	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10091134	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10094349	0.94[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10102768	0.90[JPT][hapmap]
rs10103498	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10103601	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10103842	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10103969	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10105113	0.94[ASW][hapmap];0.81[GIH][hapmap];0.89[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.84[AFR][1000 genomes]
rs10107472	0.82[CHD][hapmap];0.84[MEX][hapmap]
rs10108270	0.84[MEX][hapmap]
rs10108725	0.82[CHD][hapmap]
rs10503253	0.82[JPT][hapmap]
rs10866968	0.84[CHB][hapmap];0.94[CHD][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs10866969	0.85[EUR][1000 genomes]
rs11136730	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11136731	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12675938	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12679965	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1546356	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1847570	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1875897	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3947178	0.89[EUR][1000 genomes]
rs6558863	0.90[JPT][hapmap]
rs7834964	0.82[JPT][hapmap]
rs9314527	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530863	chr8:3710810-4381378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1034771	chr8:3969767-4255716	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1032488	chr8:4072826-4328057	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1019677	chr8:4095786-4328057	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1015485	chr8:4127704-4272847	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv34054	chr8:4165205-4450873	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv889946	chr8:4185227-4192206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv438021	chr8:4185750-4196180	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4187800-4189800	Enhancers	Fetal Intestine Large	intestine
2	chr8:4188200-4190000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:4188200-4190000	Enhancers	Brain Germinal Matrix	brain
4	chr8:4188400-4190000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:4188400-4190000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:4188400-4190000	Enhancers	Stomach Mucosa	stomach
7	chr8:4188600-4189800	Enhancers	Dnd41	blood
8	chr8:4188600-4190000	Enhancers	Brain Anterior Caudate	brain
9	chr8:4188800-4189800	Enhancers	Brain Hippocampus Middle	brain
10	chr8:4188800-4189800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:4188800-4190000	Enhancers	Brain Angular Gyrus	brain
12	chr8:4188800-4190000	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:4188800-4190200	Enhancers	Pancreas	Pancrea
14	chr8:4189000-4189800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:4189400-4191400	Enhancers	Liver	Liver
16	chr8:4189600-4189800	Enhancers	Brain Substantia Nigra	brain
17	chr8:4189600-4189800	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:4189600-4190000	Enhancers	Fetal Intestine Small	intestine

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