Variant report

Variant	rs4973324
Chromosome Location	chr2:231350800-231350801
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1102957	0.90[EUR][1000 genomes]
rs1104327	0.91[EUR][1000 genomes]
rs13000851	0.91[EUR][1000 genomes]
rs1615190	0.93[AMR][1000 genomes]
rs1622822	0.91[AMR][1000 genomes]
rs1622980	0.90[AMR][1000 genomes]
rs1649876	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1649906	0.91[EUR][1000 genomes]
rs1649907	0.91[EUR][1000 genomes]
rs1649908	0.91[EUR][1000 genomes]
rs1649909	0.87[EUR][1000 genomes]
rs1649910	0.81[EUR][1000 genomes]
rs1649921	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1649925	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1649929	0.91[AMR][1000 genomes]
rs1678151	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678187	0.91[EUR][1000 genomes]
rs1678189	0.89[EUR][1000 genomes]
rs1678190	0.82[EUR][1000 genomes]
rs1678199	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1678205	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678210	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678211	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2195196	0.91[EUR][1000 genomes]
rs2219811	0.91[AMR][1000 genomes]
rs2434050	0.91[EUR][1000 genomes]
rs33078	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs33079	0.95[EUR][1000 genomes]
rs4972955	0.87[AMR][1000 genomes]
rs4973325	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62195461	0.91[EUR][1000 genomes]
rs6436942	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6436944	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6436945	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6717269	0.91[EUR][1000 genomes]
rs6724975	0.91[EUR][1000 genomes]
rs6740016	0.91[EUR][1000 genomes]
rs699660	0.94[EUR][1000 genomes]
rs699661	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs836232	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs836236	0.91[EUR][1000 genomes]
rs836237	0.91[EUR][1000 genomes]
rs836238	0.91[EUR][1000 genomes]
rs836239	0.91[EUR][1000 genomes]
rs890668	0.94[EUR][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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231334200-231356000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:231334800-231358400	Weak transcription	Fetal Stomach	stomach
4	chr2:231335000-231359000	Weak transcription	NHLF	lung
5	chr2:231336000-231356000	Weak transcription	NHDF-Ad	bronchial
6	chr2:231336400-231363400	Weak transcription	Fetal Lung	lung
7	chr2:231336600-231356200	Weak transcription	Placenta	Placenta
8	chr2:231336600-231363400	Weak transcription	Right Ventricle	heart
9	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
10	chr2:231337800-231351400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:231337800-231359200	Weak transcription	HMEC	breast
12	chr2:231338400-231355200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:231338800-231351800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:231339000-231350800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:231339200-231354200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:231340000-231358800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:231340600-231353800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:231340600-231361000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:231340800-231351000	Strong transcription	Liver	Liver
21	chr2:231340800-231352800	Strong transcription	Primary B cells from cord blood	blood
22	chr2:231340800-231355600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:231341000-231361000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:231342000-231351200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:231344600-231355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:231344600-231356600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:231344800-231352800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:231345000-231356000	Weak transcription	Esophagus	oesophagus
29	chr2:231345400-231356000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:231345400-231359200	Weak transcription	HSMMtube	muscle
31	chr2:231345600-231355200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:231345600-231355200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:231345600-231356000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:231345600-231356200	Weak transcription	Pancreas	Pancrea
35	chr2:231345600-231357600	Weak transcription	NH-A	brain
36	chr2:231345600-231358200	Weak transcription	NHEK	skin
37	chr2:231345600-231358400	Weak transcription	Small Intestine	intestine
38	chr2:231345800-231350800	Weak transcription	Ovary	ovary
39	chr2:231345800-231350800	Weak transcription	Thymus	Thymus
40	chr2:231345800-231353000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:231345800-231355600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:231345800-231355800	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:231346000-231350800	Weak transcription	Lung	lung
44	chr2:231346000-231356000	Weak transcription	Gastric	stomach
45	chr2:231346200-231353200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:231346200-231356000	Weak transcription	Spleen	Spleen
47	chr2:231346200-231356200	Weak transcription	Fetal Intestine Large	intestine
48	chr2:231346600-231355400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:231346600-231356200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:231346600-231358200	Weak transcription	Osteobl	bone

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