Variant report

Variant	rs17128707
Chromosome Location	chr8:19441469-19441470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10088454	0.81[EUR][1000 genomes]
rs10089231	0.81[EUR][1000 genomes]
rs10095053	0.81[EUR][1000 genomes]
rs10096861	0.87[EUR][1000 genomes]
rs10100557	1.00[CEU][hapmap]
rs10100589	0.90[EUR][1000 genomes]
rs10104448	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs10106622	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10109274	0.81[EUR][1000 genomes]
rs10503649	0.82[CEU][hapmap];0.95[EUR][1000 genomes]
rs10503651	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs11995671	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11996150	0.82[CEU][hapmap]
rs11996428	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11997360	1.00[CHB][hapmap]
rs11997873	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12334362	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs12335103	1.00[CHB][hapmap]
rs13248137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248516	0.90[EUR][1000 genomes]
rs13250084	1.00[ASN][1000 genomes]
rs13261887	1.00[CEU][hapmap]
rs13263246	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13281882	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13281971	1.00[CHB][hapmap]
rs13282951	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128604	0.81[EUR][1000 genomes]
rs17128609	0.81[EUR][1000 genomes]
rs17387732	1.00[CHB][hapmap]
rs17408029	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17478671	1.00[CHB][hapmap]
rs17480419	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17480622	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28418918	0.87[AMR][1000 genomes]
rs28611430	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2975420	1.00[CHB][hapmap]
rs34520389	1.00[ASN][1000 genomes]
rs34524638	0.90[EUR][1000 genomes]
rs34561584	1.00[ASN][1000 genomes]
rs34632038	1.00[ASN][1000 genomes]
rs35086264	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35989102	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4282588	0.90[EUR][1000 genomes]
rs4461917	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs4472532	0.81[EUR][1000 genomes]
rs4472533	1.00[CEU][hapmap]
rs4481614	0.81[EUR][1000 genomes]
rs4565470	1.00[CEU][hapmap]
rs56303837	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57087900	0.87[EUR][1000 genomes]
rs59495894	1.00[ASN][1000 genomes]
rs59703425	0.81[EUR][1000 genomes]
rs60325517	1.00[ASN][1000 genomes]
rs61309921	0.90[EUR][1000 genomes]
rs61678332	1.00[ASN][1000 genomes]
rs66758432	0.95[EUR][1000 genomes]
rs67210305	0.95[EUR][1000 genomes]
rs67389428	0.90[EUR][1000 genomes]
rs6980558	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6992213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993026	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6995282	0.90[EUR][1000 genomes]
rs6995903	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6996593	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6996750	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7002643	0.80[AMR][1000 genomes]
rs7004016	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs7357426	1.00[CHB][hapmap]
rs7464041	0.86[EUR][1000 genomes]
rs7814548	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7815969	1.00[ASN][1000 genomes]
rs7840615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692698	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv465601	chr8:19434021-19456473	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv610755	chr8:19434021-19456473	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv610756	chr8:19434021-19471977	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19422600-19442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:19434000-19457800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:19434400-19442400	Weak transcription	Primary B cells from cord blood	blood
4	chr8:19434600-19450800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:19434600-19451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:19435000-19457200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:19435400-19442600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:19436400-19442400	Weak transcription	Pancreas	Pancrea
9	chr8:19437000-19445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:19437800-19441600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:19437800-19441600	Weak transcription	HepG2	liver
12	chr8:19437800-19441800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:19437800-19442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:19437800-19442600	Weak transcription	Placenta	Placenta
15	chr8:19437800-19442800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:19437800-19444800	Weak transcription	Left Ventricle	heart
17	chr8:19437800-19445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:19437800-19456200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart
20	chr8:19438200-19445000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:19438600-19444400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:19438800-19444800	Weak transcription	NHLF	lung
23	chr8:19439000-19441800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:19439000-19458600	Weak transcription	Brain Anterior Caudate	brain
25	chr8:19440200-19444400	Weak transcription	Hela-S3	cervix
26	chr8:19440600-19441800	Enhancers	Osteobl	bone
27	chr8:19440800-19441800	Enhancers	Stomach Mucosa	stomach
28	chr8:19440800-19442200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:19440800-19442800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:19441000-19441800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:19441200-19442800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:19441400-19441600	Transcr. at gene 5' and 3'	A549	lung
33	chr8:19441400-19441600	Enhancers	NHDF-Ad	bronchial
34	chr8:19441400-19441800	Enhancers	Fetal Lung	lung
35	chr8:19441400-19441800	Enhancers	Gastric	stomach

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