Variant report

Variant	rs1875897
Chromosome Location	chr8:4188891-4188892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10086105	0.94[CHD][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs10102768	0.90[JPT][hapmap]
rs10103498	0.84[CHB][hapmap];0.88[CHD][hapmap];0.80[TSI][hapmap]
rs10103601	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10104209	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10104718	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10107472	0.84[CHD][hapmap]
rs10108725	0.85[ASW][hapmap];0.84[CHD][hapmap]
rs1014760	0.81[JPT][hapmap]
rs10866968	0.88[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs10866969	0.85[EUR][1000 genomes]
rs11136730	0.90[ASN][1000 genomes]
rs1566861	0.81[JPT][hapmap]
rs17413882	0.81[JPT][hapmap]
rs1847570	0.90[JPT][hapmap]
rs1866272	0.81[JPT][hapmap]
rs4568637	0.81[JPT][hapmap]
rs6558863	0.90[JPT][hapmap]
rs6995552	0.81[JPT][hapmap]
rs7834964	0.83[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1875897	ZNF596	cis	parietal	SCAN

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	chr8:4188600-4189000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:4188600-4189800	Enhancers	Dnd41	blood
9	chr8:4188600-4190000	Enhancers	Brain Anterior Caudate	brain
10	chr8:4188800-4189000	Flanking Active TSS	Liver	Liver
11	chr8:4188800-4189200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:4188800-4189400	Enhancers	Fetal Intestine Small	intestine
13	chr8:4188800-4189600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:4188800-4189800	Enhancers	Brain Hippocampus Middle	brain
15	chr8:4188800-4189800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:4188800-4190000	Enhancers	Brain Angular Gyrus	brain
17	chr8:4188800-4190000	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:4188800-4190200	Enhancers	Pancreas	Pancrea

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