Variant report

Variant	rs7708175
Chromosome Location	chr5:93381182-93381183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1031423	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10866760	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11135394	0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs11135401	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11948511	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13186432	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17083380	0.81[ASN][1000 genomes]
rs2043979	0.81[ASN][1000 genomes]
rs2045020	0.84[TSI][hapmap]
rs35672980	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6860390	0.94[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes]
rs6869110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7721668	1.00[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7727923	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7728825	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732578	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733142	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7735009	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.85[ASN][1000 genomes]
rs896729	0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93327000-93394600	Weak transcription	Small Intestine	intestine
2	chr5:93345000-93395200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:93348400-93399000	Weak transcription	Esophagus	oesophagus
4	chr5:93348800-93394000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:93349200-93386200	Weak transcription	Spleen	Spleen
6	chr5:93351000-93394400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:93351800-93384200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:93353400-93394600	Weak transcription	Fetal Kidney	kidney
9	chr5:93354400-93384000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:93354800-93400200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:93354800-93400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:93355000-93398400	Weak transcription	Right Ventricle	heart
13	chr5:93357400-93393400	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:93357600-93385800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:93357600-93393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:93357600-93394600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:93357800-93399200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:93358000-93393000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:93358200-93385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:93358400-93396800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:93359000-93381600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:93362000-93389600	Weak transcription	Lung	lung
23	chr5:93362000-93398600	Weak transcription	Gastric	stomach
24	chr5:93362200-93384200	Weak transcription	Pancreas	Pancrea
25	chr5:93366000-93391400	Weak transcription	HSMM	muscle
26	chr5:93366400-93394400	Weak transcription	Left Ventricle	heart
27	chr5:93367400-93384200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:93367600-93384200	Weak transcription	Adipose Nuclei	Adipose
29	chr5:93367600-93390000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:93368400-93393400	Weak transcription	Psoas Muscle	Psoas
31	chr5:93369800-93384000	Weak transcription	GM12878-XiMat	blood
32	chr5:93369800-93384200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:93370400-93393400	Weak transcription	Brain Angular Gyrus	brain
34	chr5:93370600-93398400	Weak transcription	Aorta	Aorta
35	chr5:93370800-93381400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:93374600-93381200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:93375000-93384800	Weak transcription	HSMMtube	muscle
38	chr5:93375200-93382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:93375200-93386000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:93376000-93394200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:93377200-93382000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:93377200-93384000	Weak transcription	Fetal Thymus	thymus
43	chr5:93377200-93384400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:93377200-93384800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:93377200-93387600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:93377200-93387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:93377600-93390600	Weak transcription	Fetal Stomach	stomach
48	chr5:93379000-93389800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:93379600-93382000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr5:93379600-93382400	ZNF genes & repeats	Dnd41	blood

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