Variant report

Variant	rs1034530
Chromosome Location	chr1:185538362-185538363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10489704	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12097513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72482636	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185528600-185539800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:185529400-185543000	Weak transcription	Pancreas	Pancrea
3	chr1:185530800-185544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185531800-185540400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:185532800-185538800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185533000-185538800	Enhancers	HMEC	breast
7	chr1:185533000-185540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:185533000-185540800	Enhancers	NHEK	skin
9	chr1:185533400-185539000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:185534200-185540000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:185534400-185538800	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:185534600-185538600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:185534600-185540200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:185534800-185539200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:185534800-185543000	Weak transcription	A549	lung
16	chr1:185535000-185543400	Weak transcription	HSMMtube	muscle
17	chr1:185535800-185539000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:185536000-185538600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:185536200-185539000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr1:185536200-185539400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:185536200-185542000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:185536800-185538400	Weak transcription	Fetal Kidney	kidney
23	chr1:185536800-185538800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:185536800-185539000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:185536800-185539400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:185536800-185539400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:185536800-185539600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:185536800-185540600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:185537000-185540400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:185537000-185540400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:185537000-185540600	Enhancers	Primary T cells from cord blood	blood
32	chr1:185537000-185540600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:185537200-185539000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:185537200-185539200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:185537200-185540000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:185537200-185540000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:185537200-185543000	Weak transcription	Small Intestine	intestine
38	chr1:185537400-185538400	Weak transcription	Fetal Intestine Small	intestine
39	chr1:185537600-185538600	Enhancers	Osteobl	bone
40	chr1:185537600-185538800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:185537800-185538600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:185538000-185541800	Enhancers	Fetal Intestine Large	intestine
43	chr1:185538200-185538400	Enhancers	Fetal Heart	heart
44	chr1:185538200-185542000	Weak transcription	Primary B cells from peripheral blood	blood

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