Variant report

Variant	rs10100557
Chromosome Location	chr8:19445170-19445171
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10088454	0.84[CHB][hapmap]
rs10089231	0.84[CHB][hapmap]
rs10104448	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs10105363	0.84[CHB][hapmap]
rs10106622	0.84[CHB][hapmap]
rs10109274	0.84[CHB][hapmap]
rs10503649	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs10503651	0.82[CEU][hapmap]
rs11995671	0.83[CHB][hapmap]
rs11996150	0.82[CEU][hapmap]
rs11996428	0.84[CHB][hapmap]
rs11997873	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs12334362	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs13248137	1.00[CEU][hapmap]
rs13252416	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13261887	1.00[CEU][hapmap]
rs13263246	0.84[CHB][hapmap]
rs13281882	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs13282951	0.84[CHB][hapmap]
rs17128604	0.84[CHB][hapmap]
rs17128609	0.86[CHB][hapmap]
rs17128707	1.00[CEU][hapmap]
rs17480419	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28418918	0.93[EUR][1000 genomes]
rs28558562	0.82[ASN][1000 genomes]
rs34453606	0.84[ASN][1000 genomes]
rs35101845	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35590769	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4461917	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4472532	0.84[CHB][hapmap]
rs4472533	1.00[CEU][hapmap]
rs4481614	0.86[CHB][hapmap]
rs4565470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922066	0.92[CHB][hapmap];0.87[ASN][1000 genomes]
rs6980558	1.00[CEU][hapmap]
rs6984585	0.84[ASN][1000 genomes]
rs6992213	1.00[CEU][hapmap]
rs6993026	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs6995282	0.86[CHB][hapmap]
rs6995903	0.84[CHB][hapmap]
rs6996593	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs6996750	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs6997538	0.84[ASN][1000 genomes]
rs7003381	0.86[ASN][1000 genomes]
rs7004016	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7814548	0.84[CHB][hapmap]
rs7840615	1.00[CEU][hapmap]

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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19434000-19457800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:19434600-19450800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:19434600-19451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:19435000-19457200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:19437000-19445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:19437800-19445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:19437800-19456200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart
9	chr8:19439000-19458600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:19441800-19447600	Weak transcription	Gastric	stomach
11	chr8:19441800-19450600	Weak transcription	Fetal Lung	lung
12	chr8:19442000-19445400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:19442400-19455200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:19442600-19451200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:19443600-19445600	Enhancers	Placenta	Placenta
16	chr8:19443600-19451000	Weak transcription	Primary B cells from cord blood	blood
17	chr8:19444000-19445200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:19444200-19445400	Transcr. at gene 5' and 3'	A549	lung
19	chr8:19444400-19445200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:19444400-19445200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:19444400-19445400	Enhancers	Hela-S3	cervix
22	chr8:19444400-19445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:19444600-19445200	Enhancers	NHDF-Ad	bronchial
24	chr8:19444600-19445400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:19444600-19445400	Enhancers	Osteobl	bone
26	chr8:19444600-19445600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:19444600-19445600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:19444800-19445200	Enhancers	NHLF	lung
29	chr8:19444800-19445600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:19444800-19450800	Weak transcription	Primary T cells from cord blood	blood
31	chr8:19445000-19445400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:19445000-19445400	Weak transcription	Left Ventricle	heart
33	chr8:19445000-19450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:19445000-19457600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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