Variant report

Variant	rs4972955
Chromosome Location	chr2:231343618-231343619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1050224	0.97[ASN][1000 genomes]
rs1615190	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1622283	0.97[ASN][1000 genomes]
rs1622822	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1622980	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1649869	0.97[ASN][1000 genomes]
rs1649884	0.97[ASN][1000 genomes]
rs1649890	0.97[ASN][1000 genomes]
rs1649925	0.82[AMR][1000 genomes]
rs1649929	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678151	0.82[AMR][1000 genomes]
rs1678199	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1678210	0.88[AMR][1000 genomes]
rs1678211	0.82[AMR][1000 genomes]
rs2219811	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973324	0.87[AMR][1000 genomes]
rs4973325	0.82[AMR][1000 genomes]
rs6436942	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231301800-231345000	Weak transcription	A549	lung
3	chr2:231329600-231343800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:231332000-231345200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:231332400-231344400	Weak transcription	Gastric	stomach
6	chr2:231334200-231356000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:231334800-231358400	Weak transcription	Fetal Stomach	stomach
8	chr2:231335000-231344400	Weak transcription	Aorta	Aorta
9	chr2:231335000-231359000	Weak transcription	NHLF	lung
10	chr2:231335600-231344600	Weak transcription	Pancreas	Pancrea
11	chr2:231336000-231343800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:231336000-231344400	Weak transcription	Esophagus	oesophagus
13	chr2:231336000-231356000	Weak transcription	NHDF-Ad	bronchial
14	chr2:231336200-231344400	Weak transcription	HSMMtube	muscle
15	chr2:231336400-231343800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:231336400-231345200	Weak transcription	Small Intestine	intestine
17	chr2:231336400-231363400	Weak transcription	Fetal Lung	lung
18	chr2:231336600-231344200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:231336600-231345000	Weak transcription	Spleen	Spleen
20	chr2:231336600-231356200	Weak transcription	Placenta	Placenta
21	chr2:231336600-231363400	Weak transcription	Right Ventricle	heart
22	chr2:231336800-231343800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:231336800-231344200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
25	chr2:231337800-231351400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:231337800-231359200	Weak transcription	HMEC	breast
27	chr2:231338000-231344200	Weak transcription	Osteobl	bone
28	chr2:231338000-231344400	Weak transcription	NHEK	skin
29	chr2:231338400-231343800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:231338400-231344200	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:231338400-231344200	Weak transcription	Thymus	Thymus
32	chr2:231338400-231344400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:231338400-231355200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:231338600-231344200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:231338600-231344200	Weak transcription	Dnd41	blood
37	chr2:231338600-231344400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:231338800-231344200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:231338800-231344600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:231338800-231346200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:231338800-231351800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:231339000-231350800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:231339200-231349600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:231339200-231354200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:231339600-231344200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:231339800-231344000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:231339800-231344200	Weak transcription	NH-A	brain
48	chr2:231339800-231344400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:231339800-231344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:231340000-231347600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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