Variant report

Variant	rs10216916
Chromosome Location	chr8:19444607-19444608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087317	1.00[YRI][hapmap]
rs10090079	0.82[YRI][hapmap]
rs10096485	1.00[YRI][hapmap]
rs10096490	1.00[YRI][hapmap]
rs10096638	1.00[YRI][hapmap]
rs10096712	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10098690	1.00[YRI][hapmap]
rs10100290	0.81[AFR][1000 genomes]
rs10104266	1.00[YRI][hapmap]
rs10105670	1.00[YRI][hapmap]
rs10106180	1.00[YRI][hapmap]
rs10156383	1.00[YRI][hapmap]
rs10216575	1.00[YRI][hapmap]
rs13328370	1.00[YRI][hapmap]
rs17128520	1.00[YRI][hapmap]
rs17128532	1.00[YRI][hapmap]
rs17128535	1.00[YRI][hapmap]
rs17128545	1.00[YRI][hapmap]
rs17128662	1.00[YRI][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:36 , 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	chr8:19437800-19444800	Weak transcription	Left Ventricle	heart
7	chr8:19437800-19445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:19437800-19456200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart
10	chr8:19438200-19445000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:19438800-19444800	Weak transcription	NHLF	lung
12	chr8:19439000-19458600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:19441800-19447600	Weak transcription	Gastric	stomach
14	chr8:19441800-19450600	Weak transcription	Fetal Lung	lung
15	chr8:19442000-19445400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:19442400-19455200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:19442600-19444800	Strong transcription	Primary T cells from cord blood	blood
18	chr8:19442600-19451200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:19443600-19445600	Enhancers	Placenta	Placenta
20	chr8:19443600-19451000	Weak transcription	Primary B cells from cord blood	blood
21	chr8:19444000-19445000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:19444000-19445200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:19444200-19445000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:19444200-19445400	Transcr. at gene 5' and 3'	A549	lung
25	chr8:19444400-19444800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:19444400-19444800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:19444400-19445200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:19444400-19445200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:19444400-19445400	Enhancers	Hela-S3	cervix
30	chr8:19444400-19445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:19444600-19445000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:19444600-19445200	Enhancers	NHDF-Ad	bronchial
33	chr8:19444600-19445400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:19444600-19445400	Enhancers	Osteobl	bone
35	chr8:19444600-19445600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:19444600-19445600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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