Variant report

Variant	rs61196448
Chromosome Location	chr8:19556140-19556141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10091557	0.90[EUR][1000 genomes]
rs10109456	0.90[EUR][1000 genomes]
rs55763426	0.90[EUR][1000 genomes]
rs73202505	0.90[EUR][1000 genomes]
rs73202509	0.90[EUR][1000 genomes]
rs73216641	1.00[EUR][1000 genomes]
rs73216645	1.00[EUR][1000 genomes]
rs73216651	1.00[EUR][1000 genomes]
rs73216656	1.00[EUR][1000 genomes]
rs73218618	1.00[EUR][1000 genomes]
rs73218623	1.00[EUR][1000 genomes]
rs73218625	0.90[EUR][1000 genomes]
rs73218626	0.90[EUR][1000 genomes]
rs73218631	0.90[EUR][1000 genomes]
rs73218634	0.90[EUR][1000 genomes]
rs73218638	0.90[EUR][1000 genomes]
rs7828018	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1021225	chr8:19554860-19586580	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19541000-19567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19548200-19559200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:19550200-19558600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:19550200-19558600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:19550400-19558400	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:19551800-19558200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:19552400-19558600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:19552800-19557800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:19554600-19556400	Enhancers	Thymus	Thymus
10	chr8:19554600-19557800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:19554600-19557800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr8:19554600-19558600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:19554800-19558600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:19555000-19558600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:19555000-19558800	Enhancers	Primary T cells from cord blood	blood
16	chr8:19555000-19558800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:19555000-19559200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:19555000-19573200	Weak transcription	Pancreas	Pancrea
19	chr8:19555200-19556200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:19555200-19556800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:19555200-19557000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:19555200-19558000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:19555200-19563600	Weak transcription	Adipose Nuclei	Adipose
24	chr8:19555200-19566000	Weak transcription	Lung	lung
25	chr8:19555200-19567200	Weak transcription	Fetal Brain Male	brain
26	chr8:19555200-19573600	Weak transcription	Fetal Stomach	stomach
27	chr8:19555400-19556800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:19555400-19557000	Genic enhancers	A549	lung
29	chr8:19555400-19557800	Enhancers	GM12878-XiMat	blood
30	chr8:19555400-19559600	Weak transcription	Right Atrium	heart
31	chr8:19555400-19563000	Weak transcription	Left Ventricle	heart
32	chr8:19555400-19563800	Weak transcription	Placenta	Placenta
33	chr8:19555400-19566000	Weak transcription	Right Ventricle	heart
34	chr8:19555600-19556200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:19555600-19558600	Enhancers	Primary B cells from cord blood	blood
36	chr8:19555800-19556800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:19555800-19557200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:19556000-19556200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:19556000-19556200	Enhancers	Fetal Muscle Leg	muscle
40	chr8:19556000-19556600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:19556000-19557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:19556000-19557200	Weak transcription	Fetal Thymus	thymus
43	chr8:19556000-19557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:19556000-19558600	Enhancers	Primary neutrophils fromperipheralblood	blood

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