Variant report

Variant	rs2866250
Chromosome Location	chr4:101816637-101816638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10001585	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10010483	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10010652	0.98[ASN][1000 genomes]
rs10010839	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10012835	0.91[AFR][1000 genomes]
rs10013351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10019942	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10031159	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10032208	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10049744	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1032571	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12646623	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12710943	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13101247	0.97[EUR][1000 genomes]
rs13102756	1.00[EUR][1000 genomes]
rs13117083	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs13117493	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13117589	0.81[CEU][hapmap];0.84[CHB][hapmap];0.96[TSI][hapmap]
rs13118293	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13121097	0.94[EUR][1000 genomes]
rs13124911	1.00[EUR][1000 genomes]
rs13131002	1.00[ASN][1000 genomes]
rs13132631	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133911	0.98[EUR][1000 genomes]
rs13134885	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13135380	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13137995	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13140872	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13142917	0.86[EUR][1000 genomes]
rs13148044	0.94[EUR][1000 genomes]
rs13434725	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13434734	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13435486	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1497016	1.00[ASN][1000 genomes]
rs1566120	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1587240	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17030617	0.94[EUR][1000 genomes]
rs17030633	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132697	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220988	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2866249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28707515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28791596	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28814048	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28849460	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28897071	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34205475	0.98[EUR][1000 genomes]
rs34381813	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34384213	0.94[EUR][1000 genomes]
rs34389434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34524820	0.97[EUR][1000 genomes]
rs34571175	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34921100	0.98[EUR][1000 genomes]
rs34971704	0.81[EUR][1000 genomes]
rs35149900	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35360493	0.82[EUR][1000 genomes]
rs35614617	0.98[EUR][1000 genomes]
rs35632784	0.82[EUR][1000 genomes]
rs35938895	0.98[EUR][1000 genomes]
rs36038282	0.82[EUR][1000 genomes]
rs36112244	0.86[EUR][1000 genomes]
rs4698838	0.81[EUR][1000 genomes]
rs4699140	1.00[ASN][1000 genomes]
rs4699162	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307728	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6532915	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6532916	0.82[AMR][1000 genomes]
rs67935705	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6817249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6817484	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6824227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6840166	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6840505	0.98[ASN][1000 genomes]
rs6840909	1.00[ASN][1000 genomes]
rs6846371	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71614671	0.96[EUR][1000 genomes]
rs7665292	0.98[ASN][1000 genomes]
rs7694484	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7694622	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7695271	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7695375	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7696336	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978155	0.89[AFR][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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101811600-101817200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:101816200-101817400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr4:101816200-101817400	Enhancers	Small Intestine	intestine
4	chr4:101816200-101817400	Flanking Active TSS	Dnd41	blood
5	chr4:101816400-101816800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr4:101816400-101816800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:101816400-101816800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr4:101816400-101816800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr4:101816400-101817200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:101816400-101817200	Active TSS	Primary T cells fromperipheralblood	blood
11	chr4:101816400-101817200	Active TSS	Primary hematopoietic stem cells	blood
12	chr4:101816400-101817200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr4:101816400-101817200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:101816400-101817400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:101816400-101817400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:101816400-101817400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:101816400-101817400	Active TSS	Adipose Nuclei	Adipose
18	chr4:101816400-101817400	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr4:101816600-101816800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:101816600-101816800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr4:101816600-101816800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:101816600-101816800	Flanking Active TSS	Liver	Liver
23	chr4:101816600-101816800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr4:101816600-101816800	Flanking Active TSS	GM12878-XiMat	blood
25	chr4:101816600-101817000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:101816600-101817000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:101816600-101817000	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:101816600-101817000	Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr4:101816600-101817000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:101816600-101817000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:101816600-101817000	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr4:101816600-101817000	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr4:101816600-101817000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:101816600-101817000	Flanking Active TSS	Osteobl	bone
35	chr4:101816600-101817200	Active TSS	Primary B cells from cord blood	blood
36	chr4:101816600-101817200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr4:101816600-101817200	Active TSS	Primary T cells from cord blood	blood
38	chr4:101816600-101817200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:101816600-101817200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr4:101816600-101817200	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr4:101816600-101817200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr4:101816600-101817200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:101816600-101817200	Active TSS	Brain Anterior Caudate	brain
44	chr4:101816600-101817200	Active TSS	Brain Hippocampus Middle	brain
45	chr4:101816600-101817200	Active TSS	Colon Smooth Muscle	Colon
46	chr4:101816600-101817200	Active TSS	Duodenum Mucosa	Duodenum
47	chr4:101816600-101817200	Active TSS	Ovary	ovary
48	chr4:101816600-101817200	Active TSS	Rectal Smooth Muscle	rectum
49	chr4:101816600-101817200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:101816600-101817200	Active TSS	Skeletal Muscle Female	skeletal muscle

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