Variant report

Variant	rs4752322
Chromosome Location	chr10:116613258-116613259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116605339..116607463-chr10:116611819..116613655,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10490909	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10885613	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10885614	0.93[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10885616	0.82[JPT][hapmap]
rs10885618	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10885620	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885622	0.89[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11196924	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196926	0.82[JPT][hapmap]
rs11196929	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196930	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196932	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196935	0.90[EUR][1000 genomes]
rs11196936	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196937	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196939	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196940	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196941	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196942	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11196943	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196944	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196945	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11196947	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196948	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196950	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11196951	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11196952	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196953	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11196954	0.82[JPT][hapmap]
rs11196959	0.88[ASN][1000 genomes]
rs11196962	0.84[ASN][1000 genomes]
rs11819372	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12218498	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12411629	0.84[JPT][hapmap]
rs12414613	0.82[JPT][hapmap]
rs12415173	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1359079	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1359080	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17092491	0.84[JPT][hapmap]
rs17095662	0.96[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17586888	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17663387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17663670	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1924034	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016966	0.84[JPT][hapmap]
rs2146805	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2181563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286632	0.84[JPT][hapmap]
rs2420065	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2420066	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2420067	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2420069	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35453961	0.88[ASN][1000 genomes]
rs3758603	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752255	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752256	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752347	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55671354	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55759483	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58587374	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61596353	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61867965	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61868024	0.88[ASN][1000 genomes]
rs6585300	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7073309	0.85[ASN][1000 genomes]
rs7077148	0.88[ASN][1000 genomes]
rs7079877	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7081975	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7082836	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7093686	0.83[EUR][1000 genomes]
rs7095816	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs758585	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs765173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765174	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7895830	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897937	0.93[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7898347	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7903663	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7904188	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7907837	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908237	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7908665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914792	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7915943	0.96[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7918129	0.88[ASN][1000 genomes]
rs7919649	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7920216	0.93[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7923693	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8181444	0.94[EUR][1000 genomes];0.88[ASN][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	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv831996	chr10:116601552-116772968	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4752322	FAM160B1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116583000-116617600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:116583200-116616800	Weak transcription	K562	blood
3	chr10:116589600-116626600	Weak transcription	Stomach Mucosa	stomach
4	chr10:116589600-116640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:116590200-116614400	Strong transcription	HSMM	muscle
6	chr10:116590800-116614800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:116590800-116616600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:116590800-116624400	Strong transcription	Dnd41	blood
9	chr10:116590800-116625600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:116590800-116626400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:116591000-116616000	Strong transcription	Placenta	Placenta
12	chr10:116591000-116619400	Strong transcription	Fetal Muscle Leg	muscle
13	chr10:116591000-116624800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr10:116591000-116626600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:116591800-116614400	Strong transcription	Osteobl	bone
16	chr10:116592400-116614000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:116592400-116625200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:116592600-116616600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:116593000-116616800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:116593200-116613600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:116595800-116623000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:116596000-116617000	Strong transcription	Adipose Nuclei	Adipose
23	chr10:116599800-116613400	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr10:116600400-116615200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:116600400-116615800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:116601800-116613600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:116602400-116613600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:116602600-116613400	Strong transcription	NH-A	brain
29	chr10:116602600-116624800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr10:116602800-116613400	Strong transcription	Fetal Brain Female	brain
31	chr10:116602800-116613800	Strong transcription	Colon Smooth Muscle	Colon
32	chr10:116604800-116627200	Weak transcription	Small Intestine	intestine
33	chr10:116605200-116614400	Weak transcription	Fetal Heart	heart
34	chr10:116606200-116616000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:116606200-116624200	Weak transcription	Gastric	stomach
36	chr10:116606400-116615200	Weak transcription	HMEC	breast
37	chr10:116606600-116619800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr10:116608400-116613400	Strong transcription	A549	lung
39	chr10:116609200-116619000	Weak transcription	Right Ventricle	heart
40	chr10:116609400-116623400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr10:116609600-116615800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr10:116609600-116619000	Weak transcription	Aorta	Aorta
43	chr10:116609600-116634800	Weak transcription	Spleen	Spleen
44	chr10:116609600-116639400	Weak transcription	Pancreas	Pancrea
45	chr10:116609800-116616600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:116610000-116615000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr10:116610000-116615400	Weak transcription	NHEK	skin
48	chr10:116610200-116614200	Weak transcription	NHLF	lung
49	chr10:116610200-116625000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:116610200-116625000	Weak transcription	Colonic Mucosa	Colon

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