Variant report

Variant	rs17161880
Chromosome Location	chr7:99348361-99348362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10211	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs10254729	0.82[JPT][hapmap]
rs10282706	0.88[JPT][hapmap]
rs11772470	0.82[JPT][hapmap]
rs12333983	0.86[ASN][1000 genomes]
rs12360	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs12536946	0.87[ASN][1000 genomes]
rs1357319	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs1419745	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17161774	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs17161780	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs17161783	0.90[CHB][hapmap]
rs1879859	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2005548	1.00[EUR][1000 genomes]
rs2037498	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2037499	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2222411	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2257401	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2404770	0.88[JPT][hapmap]
rs2404955	0.86[ASN][1000 genomes]
rs2687075	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2687076	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2687079	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2687081	0.88[JPT][hapmap]
rs2687086	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2687087	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2687133	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2687134	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2687136	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2687139	0.88[JPT][hapmap]
rs2687140	0.87[JPT][hapmap]
rs2687142	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2687144	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2687145	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2740561	0.87[JPT][hapmap]
rs2740565	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs28878860	0.80[ASN][1000 genomes]
rs34880695	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35909867	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35974388	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35984428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735451	0.86[ASN][1000 genomes]
rs3735453	0.88[JPT][hapmap]
rs3991809	0.86[ASN][1000 genomes]
rs4646446	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs4646447	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs4646449	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs4646453	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs4646456	0.90[CHB][hapmap]
rs4646458	0.90[CHB][hapmap]
rs4646462	1.00[EUR][1000 genomes]
rs58986456	0.80[ASN][1000 genomes]
rs59172435	1.00[EUR][1000 genomes]
rs59836234	0.86[ASN][1000 genomes]
rs60153739	0.87[ASN][1000 genomes]
rs60298785	1.00[EUR][1000 genomes]
rs61593387	1.00[EUR][1000 genomes]
rs6465750	0.88[JPT][hapmap]
rs6945984	0.87[ASN][1000 genomes]
rs6955424	0.82[ASN][1000 genomes]
rs6961634	0.82[JPT][hapmap]
rs72494456	1.00[EUR][1000 genomes]
rs72494458	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776741	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs776746	0.88[JPT][hapmap]
rs868564	0.82[JPT][hapmap]
rs939955	1.00[EUR][1000 genomes]

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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3450108	chr7:99339737-99383419	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv981555	chr7:99346675-99355848	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99311800-99349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:99339200-99352200	Weak transcription	Left Ventricle	heart
3	chr7:99346200-99350200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:99346400-99350400	Enhancers	HMEC	breast
5	chr7:99346600-99350200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:99346600-99350200	Enhancers	NHEK	skin
7	chr7:99346600-99350400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:99346800-99350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:99347400-99348600	Enhancers	Esophagus	oesophagus
10	chr7:99347800-99349000	Enhancers	Hela-S3	cervix
11	chr7:99347800-99350400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:99348000-99348600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:99348000-99348600	Enhancers	Pancreas	Pancrea
14	chr7:99348000-99348600	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:99348000-99348600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:99348000-99349000	Enhancers	A549	lung
17	chr7:99348000-99350800	Enhancers	Fetal Intestine Small	intestine
18	chr7:99348000-99351000	Enhancers	Fetal Intestine Large	intestine
19	chr7:99348000-99351000	Enhancers	Stomach Mucosa	stomach
20	chr7:99348200-99348400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:99348200-99348400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:99348200-99348600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:99348200-99348600	Enhancers	Gastric	stomach
24	chr7:99348200-99348600	Enhancers	Lung	lung
25	chr7:99348200-99349000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:99348200-99349400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:99348200-99349600	Enhancers	Duodenum Mucosa	Duodenum
28	chr7:99348200-99349800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:99348200-99350000	Enhancers	K562	blood
30	chr7:99348200-99351000	Enhancers	HepG2	liver

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