Variant report

Variant	rs6586848
Chromosome Location	chr8:19442515-19442516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10096224	0.87[CHB][hapmap]
rs10282938	0.86[CHB][hapmap]
rs10282948	0.87[CHB][hapmap]
rs11988176	0.87[CHB][hapmap]
rs11988991	0.85[ASN][1000 genomes]
rs12334858	0.81[CEU][hapmap]
rs13260841	0.89[ASN][1000 genomes]
rs35265506	0.87[ASN][1000 genomes]
rs4332151	0.87[CHB][hapmap]
rs4507779	0.87[CHB][hapmap]
rs4549790	0.85[ASN][1000 genomes]
rs4563899	0.85[ASN][1000 genomes]
rs4922062	0.86[ASN][1000 genomes]
rs55808915	0.85[ASN][1000 genomes]
rs6586847	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986805	0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6996732	0.93[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6998022	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][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:33 , 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	chr8:19435400-19442600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:19437000-19445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:19437800-19442600	Weak transcription	Placenta	Placenta
8	chr8:19437800-19442800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:19437800-19444800	Weak transcription	Left Ventricle	heart
10	chr8:19437800-19445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:19437800-19456200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart
13	chr8:19438200-19445000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:19438600-19444400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:19438800-19444800	Weak transcription	NHLF	lung
16	chr8:19439000-19458600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:19440200-19444400	Weak transcription	Hela-S3	cervix
18	chr8:19440800-19442800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:19441200-19442800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:19441600-19442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:19441600-19442600	Flanking Active TSS	A549	lung
22	chr8:19441800-19443000	Enhancers	Fetal Kidney	kidney
23	chr8:19441800-19444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:19441800-19444600	Weak transcription	Osteobl	bone
25	chr8:19441800-19447600	Weak transcription	Gastric	stomach
26	chr8:19441800-19450600	Weak transcription	Fetal Lung	lung
27	chr8:19442000-19445400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:19442200-19443400	Enhancers	Stomach Mucosa	stomach
29	chr8:19442200-19444400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:19442400-19443000	Enhancers	Pancreas	Pancrea
31	chr8:19442400-19443600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:19442400-19443600	Strong transcription	Primary B cells from cord blood	blood
33	chr8:19442400-19455200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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