Variant report

Variant	rs4599071
Chromosome Location	chr2:184038659-184038660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10167583	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10194747	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11695124	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12990133	0.82[ASN][1000 genomes]
rs13033866	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1400131	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1462532	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1462533	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1829122	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882444	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2368375	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2368377	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2368382	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2675045	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2675046	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2675082	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2675087	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2675090	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2675102	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2675108	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705727	0.84[AFR][1000 genomes]
rs2705760	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2944353	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2952361	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2952363	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35898950	0.82[ASN][1000 genomes]
rs3791249	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666891	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666894	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4666897	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55865107	0.82[ASN][1000 genomes]
rs58605274	0.80[AFR][1000 genomes]
rs6705441	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6709729	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6714769	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6733392	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67391943	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6744793	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6754942	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6755399	0.82[ASN][1000 genomes]
rs6761345	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67952840	0.82[ASN][1000 genomes]
rs68009860	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7570918	0.82[ASN][1000 genomes]
rs7600893	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7601311	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs925806	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
6	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
7	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
9	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
12	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
13	chr2:184019000-184043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:184019000-184050000	Weak transcription	Gastric	stomach
15	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
16	chr2:184026000-184054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:184026600-184043200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:184026800-184047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:184028600-184045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:184028800-184043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:184028800-184043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:184029000-184047400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:184029200-184043000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:184029200-184043200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:184029200-184043600	Weak transcription	Right Ventricle	heart
29	chr2:184029200-184047200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:184029200-184047200	Weak transcription	HepG2	liver
31	chr2:184029200-184047400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:184029200-184047400	Weak transcription	HSMM	muscle
33	chr2:184029200-184050000	Weak transcription	HUVEC	blood vessel
34	chr2:184029200-184054800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:184029400-184039200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:184029400-184040400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:184029400-184043400	Weak transcription	Adipose Nuclei	Adipose
39	chr2:184029400-184043400	Weak transcription	Left Ventricle	heart
40	chr2:184029400-184043400	Weak transcription	Ovary	ovary
41	chr2:184029400-184043600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:184029400-184043600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:184029400-184043600	Weak transcription	Lung	lung
44	chr2:184029400-184043800	Weak transcription	NH-A	brain
45	chr2:184029400-184045800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:184029400-184047400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:184029400-184047400	Weak transcription	K562	blood
48	chr2:184029400-184050200	Weak transcription	Osteobl	bone
49	chr2:184029400-184053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:184029600-184040200	Weak transcription	Duodenum Mucosa	Duodenum

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