Variant report

Variant	rs2008711
Chromosome Location	chr1:84908822-84908823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84907601..84909652-chr1:85039364..85041432,2	K562	blood:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10493746	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874441	0.91[ASN][1000 genomes]
rs12755232	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1340598	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506702	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1506703	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17131698	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17131701	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131702	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131707	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827939	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911156	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1959757	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1959758	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2105267	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389742	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3116406	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34519183	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34760754	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35779335	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768250	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4345821	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907066	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61766293	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61766294	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701340	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7514800	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7515554	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7538902	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7540794	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7549128	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs959363	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:84907400-84909600	Enhancers	Duodenum Mucosa	Duodenum
2	chr1:84907600-84909200	Enhancers	Dnd41	blood
3	chr1:84907600-84909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:84907800-84909200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:84907800-84909200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:84907800-84909200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:84907800-84909200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:84907800-84909200	Enhancers	NHDF-Ad	bronchial
9	chr1:84907800-84909400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:84907800-84909400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:84907800-84909600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:84907800-84909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:84907800-84909800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:84908000-84909400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:84908000-84909400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:84908000-84909600	Enhancers	Primary T cells from cord blood	blood
17	chr1:84908200-84909000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:84908200-84909000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:84908200-84909000	Enhancers	Stomach Mucosa	stomach
20	chr1:84908200-84909400	Enhancers	Primary B cells from cord blood	blood
21	chr1:84908200-84909400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:84908200-84909600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:84908200-84909600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:84908200-84909600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:84908200-84909800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:84908200-84909800	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:84908400-84909000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:84908400-84909000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:84908400-84909400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:84908400-84909600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:84908400-84909600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:84908400-84909600	Enhancers	Fetal Thymus	thymus
33	chr1:84908400-84909600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:84908600-84909200	Enhancers	Thymus	Thymus
35	chr1:84908600-84909600	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:84908800-84909400	Enhancers	NHLF	lung

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