Variant report

Variant	rs10942617
Chromosome Location	chr5:90194112-90194113
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:33)

rs_ID	r²[population]
rs10942614	0.85[CHD][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap]
rs10942615	0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10942616	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11948100	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11956677	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12658466	0.96[EUR][1000 genomes]
rs16869291	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1818350	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1828175	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs36088173	0.96[EUR][1000 genomes]
rs4362971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4382198	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916692	0.85[CEU][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4916824	0.85[CEU][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4916825	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4916830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56851353	0.96[EUR][1000 genomes]
rs58258039	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59665236	0.81[EUR][1000 genomes]
rs61006221	0.96[EUR][1000 genomes]
rs61130831	0.81[EUR][1000 genomes]
rs6861214	0.82[CEU][hapmap]
rs6863794	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6886778	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889598	0.96[EUR][1000 genomes]
rs6893164	0.85[CEU][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73771110	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73771113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73771115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73771117	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73771118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73771119	0.96[EUR][1000 genomes]
rs7709355	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90163600-90194400	Weak transcription	Pancreas	Pancrea
2	chr5:90185000-90226600	Weak transcription	K562	blood
3	chr5:90186400-90218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:90190400-90194400	Weak transcription	Stomach Mucosa	stomach
5	chr5:90191000-90194400	Enhancers	Liver	Liver
6	chr5:90191800-90195000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:90192800-90204400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:90192800-90204800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:90193400-90194600	Enhancers	HepG2	liver
10	chr5:90193400-90194600	Enhancers	NHEK	skin
11	chr5:90193400-90195200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:90193600-90194600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:90193800-90194200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:90193800-90194200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:90193800-90194200	Enhancers	A549	lung
16	chr5:90193800-90194800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:90193800-90195200	Weak transcription	Esophagus	oesophagus
18	chr5:90193800-90195600	Weak transcription	Gastric	stomach
19	chr5:90193800-90195800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:90194000-90195800	Enhancers	Duodenum Mucosa	Duodenum

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