Variant report

Variant	rs28661517
Chromosome Location	chr8:19438916-19438917
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19436000..19438471-chr8:19438486..19440829,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10087317	1.00[AMR][1000 genomes]
rs10087663	1.00[AMR][1000 genomes]
rs10088450	1.00[AMR][1000 genomes]
rs10091002	1.00[EUR][1000 genomes]
rs10094142	1.00[AMR][1000 genomes]
rs10096485	1.00[AMR][1000 genomes]
rs10096490	1.00[AMR][1000 genomes]
rs10096638	1.00[AMR][1000 genomes]
rs10097851	1.00[AMR][1000 genomes]
rs10101907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104615	1.00[AMR][1000 genomes]
rs10104968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106180	1.00[AMR][1000 genomes]
rs10106270	1.00[AMR][1000 genomes]
rs10107181	1.00[AMR][1000 genomes]
rs10109345	1.00[AMR][1000 genomes]
rs17128520	1.00[AMR][1000 genomes]
rs17128532	1.00[AMR][1000 genomes]
rs17128535	1.00[AMR][1000 genomes]
rs17128545	1.00[AMR][1000 genomes]
rs17128641	1.00[AMR][1000 genomes]
rs17128662	1.00[AMR][1000 genomes]
rs17128691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128714	1.00[AMR][1000 genomes]
rs17128743	1.00[AMR][1000 genomes]
rs17128745	1.00[AMR][1000 genomes]
rs17128792	1.00[AMR][1000 genomes]
rs17128803	1.00[AMR][1000 genomes]
rs17128811	1.00[AMR][1000 genomes]
rs28415838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427117	1.00[AMR][1000 genomes]
rs28457744	1.00[AMR][1000 genomes]
rs28491635	1.00[AMR][1000 genomes]
rs28578312	1.00[AMR][1000 genomes]
rs28607676	1.00[AMR][1000 genomes]
rs28654443	1.00[AMR][1000 genomes]
rs28713671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28738093	1.00[AMR][1000 genomes]
rs28742998	1.00[AMR][1000 genomes]
rs7817946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821215	1.00[AMR][1000 genomes]
rs7821389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824941	1.00[AMR][1000 genomes]
rs7839912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9325858	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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:39 , 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	chr8:19436600-19440200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:19436800-19439600	Enhancers	Hela-S3	cervix
11	chr8:19437000-19439000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr8:19437000-19445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:19437600-19439000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:19437800-19439200	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:19437800-19441200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:19437800-19441400	Weak transcription	Gastric	stomach
17	chr8:19437800-19441400	Weak transcription	NHDF-Ad	bronchial
18	chr8:19437800-19441600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:19437800-19441600	Weak transcription	HepG2	liver
20	chr8:19437800-19441800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:19437800-19442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:19437800-19442600	Weak transcription	Placenta	Placenta
23	chr8:19437800-19442800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:19437800-19444800	Weak transcription	Left Ventricle	heart
25	chr8:19437800-19445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:19437800-19456200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart
28	chr8:19438000-19440800	Weak transcription	Stomach Mucosa	stomach
29	chr8:19438200-19441400	Weak transcription	Fetal Lung	lung
30	chr8:19438200-19445000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:19438400-19439000	Enhancers	Brain Anterior Caudate	brain
32	chr8:19438600-19439400	Enhancers	A549	lung
33	chr8:19438600-19439800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:19438600-19444400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:19438800-19439200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:19438800-19440000	Weak transcription	Osteobl	bone
37	chr8:19438800-19440800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:19438800-19441000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:19438800-19444800	Weak transcription	NHLF	lung

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