Variant report

Variant	rs58605274
Chromosome Location	chr2:184016883-184016884
allele	-/CACA/CACACACAC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:184015191..184017995-chr2:184020754..184023549,2	K562	blood:
2	chr2:184015358..184018990-chr2:184020660..184023172,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10167583	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13033866	0.82[AMR][1000 genomes]
rs1400131	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1462532	0.81[AMR][1000 genomes]
rs1462533	0.81[AMR][1000 genomes]
rs1829122	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1882444	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2368375	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2368377	0.82[AFR][1000 genomes]
rs2368382	0.82[AMR][1000 genomes]
rs2675045	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2675046	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2675082	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2675087	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2675090	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2675102	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2675108	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2705727	0.80[AFR][1000 genomes]
rs2705760	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2952361	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2952363	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3791249	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4599071	0.80[AFR][1000 genomes]
rs4666891	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4666894	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4666897	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6705441	0.82[AMR][1000 genomes]
rs6709729	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6714769	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6733392	0.80[AFR][1000 genomes]
rs67391943	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6744793	0.82[AMR][1000 genomes]
rs6754942	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6761345	0.82[AMR][1000 genomes]
rs68009860	0.82[AMR][1000 genomes]
rs7600893	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7601311	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs925806	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	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
8	esv1387039	chr2:184016863-184016883	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
3	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
4	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
6	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
7	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:183991000-184018400	Weak transcription	Gastric	stomach
10	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
11	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
16	chr2:183991400-184034000	Weak transcription	NHLF	lung
17	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
18	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
20	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:183996400-184018400	Weak transcription	Lung	lung
23	chr2:183996400-184025800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:184002200-184017600	Weak transcription	Pancreas	Pancrea
25	chr2:184005000-184025200	Weak transcription	Left Ventricle	heart
26	chr2:184009000-184018200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:184009000-184018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:184009000-184023000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:184009000-184023600	Weak transcription	HMEC	breast
30	chr2:184009000-184028600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:184009200-184017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:184009200-184017000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:184009200-184017000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:184009200-184017000	Weak transcription	Thymus	Thymus
36	chr2:184009200-184017400	Weak transcription	Fetal Brain Female	brain
37	chr2:184009200-184017400	Weak transcription	Fetal Thymus	thymus
38	chr2:184009200-184018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:184009200-184024200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:184009200-184024200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:184009200-184025000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:184009200-184025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:184009200-184025600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:184009200-184025800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:184009200-184028400	Weak transcription	Brain Anterior Caudate	brain
46	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
47	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
48	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:184009400-184019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:184009400-184024200	Weak transcription	NH-A	brain

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