Variant report

Variant	rs12331721
Chromosome Location	chr4:169399074-169399075
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10002308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13353710	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17054232	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2029386	0.90[ASN][1000 genomes]
rs2710831	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2710832	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28524000	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28675009	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55764504	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9999142	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv881379	chr4:169361897-169504099	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:169330400-169401200	Weak transcription	Brain Substantia Nigra	brain
2	chr4:169338600-169401200	Weak transcription	Gastric	stomach
3	chr4:169343400-169400000	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:169344200-169401200	Weak transcription	Aorta	Aorta
5	chr4:169349200-169400400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:169349600-169401000	Weak transcription	Pancreas	Pancrea
7	chr4:169373000-169401000	Weak transcription	Small Intestine	intestine
8	chr4:169373600-169400800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:169379400-169400200	Weak transcription	Colonic Mucosa	Colon
10	chr4:169379800-169401000	Weak transcription	Esophagus	oesophagus
11	chr4:169388600-169399400	Weak transcription	Right Ventricle	heart
12	chr4:169388600-169400800	Weak transcription	Psoas Muscle	Psoas
13	chr4:169389200-169400800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:169389200-169401000	Weak transcription	Lung	lung
15	chr4:169389400-169400800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:169389400-169401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:169389400-169401000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:169392200-169400200	Weak transcription	NHLF	lung
19	chr4:169392200-169400600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:169392200-169400800	Weak transcription	Fetal Stomach	stomach
21	chr4:169392200-169400800	Weak transcription	Left Ventricle	heart
22	chr4:169392200-169401000	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:169392200-169401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:169392400-169400400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:169392400-169400400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:169393200-169399600	Weak transcription	Osteobl	bone
27	chr4:169393400-169400800	Weak transcription	NH-A	brain
28	chr4:169393600-169400000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:169393600-169400400	Weak transcription	Adipose Nuclei	Adipose
30	chr4:169393600-169400600	Weak transcription	Fetal Intestine Large	intestine
31	chr4:169393600-169400800	Weak transcription	Ovary	ovary
32	chr4:169393600-169401000	Weak transcription	Fetal Lung	lung
33	chr4:169394200-169400400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:169394800-169399600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:169394800-169400000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:169394800-169400000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:169394800-169400200	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:169394800-169401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:169395000-169400200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:169395000-169400800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:169395200-169400000	Weak transcription	Placenta	Placenta
42	chr4:169395600-169400200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:169396200-169400400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr4:169396200-169400400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr4:169396400-169400000	Weak transcription	Hela-S3	cervix
46	chr4:169396400-169400200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:169396400-169400400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr4:169396400-169400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:169396400-169400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:169396600-169400000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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