Variant report

Variant	rs58028937
Chromosome Location	chr2:171996629-171996630
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171978962..171981952-chr2:171996224..171998701,2	K562	blood:
2	chr2:171830106..171833063-chr2:171996453..171998706,2	K562	blood:
3	chr2:171994040..171997027-chr2:172088765..172091455,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13389859	0.81[EUR][1000 genomes]
rs16823191	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16859087	0.83[AFR][1000 genomes]
rs16859121	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16859137	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16859167	0.81[EUR][1000 genomes]
rs16859176	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2356600	0.82[AMR][1000 genomes]
rs2356609	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2883940	0.84[AFR][1000 genomes]
rs55644524	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55885449	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55939429	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55995602	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55997598	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56004444	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56155163	0.81[EUR][1000 genomes]
rs56155601	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56191582	0.83[AFR][1000 genomes]
rs56308745	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56382502	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56934523	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57173242	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57733560	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58307585	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58685348	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59841744	0.81[EUR][1000 genomes]
rs60396936	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60730419	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6722196	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6736045	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6746133	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6750585	0.81[AMR][1000 genomes]
rs73013435	0.81[EUR][1000 genomes]
rs73013436	0.81[EUR][1000 genomes]
rs73013439	0.81[EUR][1000 genomes]
rs73013453	0.81[EUR][1000 genomes]
rs73017249	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73027271	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73029214	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73976285	0.81[EUR][1000 genomes]
rs7591214	0.81[EUR][1000 genomes]
rs7604392	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9752051	0.83[AMR][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	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171957200-172010400	Weak transcription	HSMM	muscle
3	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
6	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
10	chr2:171987400-171999400	Weak transcription	Spleen	Spleen
11	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:171988400-171999800	Enhancers	HepG2	liver
13	chr2:171989400-172007000	Weak transcription	Lung	lung
14	chr2:171989800-171996800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:171990200-171997400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:171990600-172004800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:171990800-172001200	Weak transcription	Primary B cells from cord blood	blood
19	chr2:171991200-171997400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:171991600-171998000	Weak transcription	Aorta	Aorta
21	chr2:171992200-171997200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:171992200-171999800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:171993600-171997600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:171993800-171997600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:171993800-171997600	Weak transcription	Small Intestine	intestine
26	chr2:171993800-172001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:171994000-171997200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:171994000-172002200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:171994000-172010400	Weak transcription	Thymus	Thymus
30	chr2:171994200-171996800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:171994200-171997800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:171994200-171997800	Weak transcription	Psoas Muscle	Psoas
33	chr2:171994200-171999000	Weak transcription	Stomach Mucosa	stomach
34	chr2:171994200-171999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:171994200-172002800	Weak transcription	Right Atrium	heart
36	chr2:171994200-172010400	Weak transcription	Ovary	ovary
37	chr2:171994800-172005400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:171995000-172001000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:171995200-171997800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:171995200-171997800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:171995200-171998200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:171995200-171999800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:171995200-172004400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:171995400-171996800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:171995400-171996800	Weak transcription	Liver	Liver
46	chr2:171995400-171997600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:171995400-171997600	Weak transcription	Primary T cells from cord blood	blood
48	chr2:171995400-171997800	Weak transcription	A549	lung
49	chr2:171995400-171998000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:171995400-172012200	Weak transcription	Dnd41	blood

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