Variant report

Variant	rs6656130
Chromosome Location	chr1:93374847-93374848
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	chr1:93373844..93375386-chr1:93383683..93387098,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58841378	0.91[AFR][1000 genomes]
rs72969911	1.00[AFR][1000 genomes]
rs72969954	0.91[AFR][1000 genomes]
rs72969971	0.91[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93364600-93375200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:93366400-93409200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:93366600-93375000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:93367000-93390400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:93367600-93375000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:93367800-93375200	Weak transcription	HSMM	muscle
7	chr1:93367800-93379200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:93368000-93375800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:93368000-93375800	Weak transcription	Aorta	Aorta
10	chr1:93368200-93375200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:93368400-93375000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:93369000-93394200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:93370000-93376400	Weak transcription	Dnd41	blood
14	chr1:93370200-93378000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:93370200-93378600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:93370400-93395000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:93370600-93395000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:93371000-93376400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:93371400-93376600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:93371600-93375600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:93371600-93376000	Strong transcription	Primary T cells from cord blood	blood
22	chr1:93372400-93375000	Weak transcription	Psoas Muscle	Psoas
23	chr1:93372600-93376400	Weak transcription	GM12878-XiMat	blood
24	chr1:93373000-93376000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:93373000-93376600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:93373000-93376800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:93373000-93377000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:93373200-93375400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:93373200-93376000	Enhancers	NHDF-Ad	bronchial
30	chr1:93373200-93376600	Enhancers	HMEC	breast
31	chr1:93373400-93375600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:93373400-93375800	Enhancers	NH-A	brain
33	chr1:93373400-93375800	Enhancers	NHLF	lung
34	chr1:93373400-93376000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:93373400-93376000	Enhancers	Osteobl	bone
36	chr1:93373600-93376000	Enhancers	HepG2	liver
37	chr1:93373800-93376000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:93374000-93375200	Weak transcription	HSMMtube	muscle
39	chr1:93374200-93375400	Enhancers	Stomach Mucosa	stomach
40	chr1:93374200-93376400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:93374200-93377400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:93374200-93378200	Weak transcription	Liver	Liver
43	chr1:93374200-93384800	Weak transcription	Primary B cells from cord blood	blood
44	chr1:93374400-93375800	Weak transcription	A549	lung
45	chr1:93374400-93376000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:93374400-93379000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:93374600-93375000	Enhancers	NHEK	skin
48	chr1:93374600-93375200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:93374600-93375400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:93374600-93382200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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