Variant report

Variant	rs6816503
Chromosome Location	chr4:149084447-149084448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10023128	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10031194	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10519942	0.85[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs11725360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11729617	0.84[ASN][1000 genomes]
rs17024404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17024408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17024437	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17024443	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17620330	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1879827	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2293162	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs28367185	0.95[ASN][1000 genomes]
rs28368806	0.98[ASN][1000 genomes]
rs28789690	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3846299	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3931397	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57616130	0.95[ASN][1000 genomes]
rs61757920	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62331988	0.88[ASN][1000 genomes]
rs62332226	0.98[ASN][1000 genomes]
rs6535580	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6535581	0.86[JPT][hapmap]
rs6811001	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670173	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7670229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][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	nsv1032794	chr4:149046598-149135489	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537295	chr4:149046598-149135489	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149018000-149085800	Weak transcription	Stomach Mucosa	stomach
2	chr4:149041400-149092000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:149045600-149104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:149046400-149085800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:149046600-149087400	Weak transcription	Aorta	Aorta
6	chr4:149055000-149087400	Weak transcription	Psoas Muscle	Psoas
7	chr4:149063000-149087400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:149063200-149085600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:149067600-149087400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:149068000-149085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:149068000-149085800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:149068000-149097400	Weak transcription	Spleen	Spleen
13	chr4:149068200-149087400	Weak transcription	Esophagus	oesophagus
14	chr4:149069200-149087400	Weak transcription	Adipose Nuclei	Adipose
15	chr4:149073200-149085800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:149074800-149085800	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:149075800-149084800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:149075800-149085800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:149076000-149085800	Weak transcription	Ovary	ovary
20	chr4:149076000-149088200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:149076000-149094600	Weak transcription	Fetal Stomach	stomach
22	chr4:149081800-149086800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:149082000-149085400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:149083000-149085400	Enhancers	NHEK	skin
25	chr4:149083000-149085600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:149083000-149086200	Enhancers	Fetal Intestine Large	intestine
27	chr4:149083000-149088600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:149083200-149084800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:149083200-149084800	Enhancers	Placenta	Placenta
30	chr4:149083200-149084800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:149083200-149085200	Enhancers	HMEC	breast
32	chr4:149083200-149087400	Weak transcription	Right Ventricle	heart
33	chr4:149083400-149085200	Enhancers	Fetal Heart	heart
34	chr4:149083400-149086000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:149083400-149086200	Enhancers	Fetal Kidney	kidney
36	chr4:149083600-149084800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:149083800-149084600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:149084000-149084600	Weak transcription	Small Intestine	intestine
39	chr4:149084000-149085200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:149084000-149085800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:149084000-149086000	Weak transcription	Left Ventricle	heart
42	chr4:149084000-149087400	Weak transcription	Right Atrium	heart
43	chr4:149084000-149092200	Weak transcription	Gastric	stomach
44	chr4:149084000-149094400	Weak transcription	Pancreas	Pancrea
45	chr4:149084000-149106200	Weak transcription	Lung	lung
46	chr4:149084400-149085400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:149084400-149086200	Enhancers	Duodenum Mucosa	Duodenum

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