Variant report

Variant	rs4814508
Chromosome Location	chr20:16535556-16535557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1004895	0.84[JPT][hapmap]
rs1071913	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16997837	0.85[JPT][hapmap]
rs1997902	0.85[JPT][hapmap]
rs2092695	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2143986	0.85[JPT][hapmap]
rs2223906	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4814507	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6034522	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6034523	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6034524	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044077	0.84[ASN][1000 genomes]
rs6044080	0.84[JPT][hapmap]
rs6044084	0.96[ASN][1000 genomes]
rs6044087	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044088	0.85[JPT][hapmap]
rs6044089	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044090	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6044092	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6044094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044095	0.85[JPT][hapmap]
rs6044097	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044098	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6044100	0.84[JPT][hapmap]
rs6044102	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6044103	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6044104	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6044106	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044110	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6044113	0.85[JPT][hapmap]
rs6075070	0.84[JPT][hapmap]
rs6111174	0.84[JPT][hapmap]
rs6111177	0.84[JPT][hapmap]
rs6135794	0.85[JPT][hapmap]
rs6135795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6514689	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4814508	C20orf23	Cis_1M	lymphoblastoid	RTeQTL
rs4814508	KIF16B	cis	Thyroid	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16508400-16536800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr20:16509200-16553000	Weak transcription	Primary T cells from cord blood	blood
3	chr20:16511600-16549000	Weak transcription	Colonic Mucosa	Colon
4	chr20:16518200-16535800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:16522800-16536800	Weak transcription	Aorta	Aorta
6	chr20:16530200-16536400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:16530400-16536400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:16533000-16536000	Weak transcription	Fetal Kidney	kidney
9	chr20:16533200-16536600	Weak transcription	Ovary	ovary
10	chr20:16533400-16535800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:16533600-16536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:16533800-16536000	Enhancers	Right Ventricle	heart
13	chr20:16533800-16537600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:16533800-16538400	Enhancers	NHEK	skin
15	chr20:16534000-16536000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:16534000-16536000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:16534200-16536800	Weak transcription	Small Intestine	intestine
18	chr20:16534200-16537600	Enhancers	Adipose Nuclei	Adipose
19	chr20:16534200-16537600	Enhancers	Esophagus	oesophagus
20	chr20:16534200-16538200	Weak transcription	Brain Anterior Caudate	brain
21	chr20:16534400-16535800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:16534400-16535800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:16534400-16535800	Enhancers	Gastric	stomach
24	chr20:16534400-16536200	Enhancers	Lung	lung
25	chr20:16534600-16535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr20:16534600-16536000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:16534600-16538400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr20:16534600-16553600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:16534800-16535600	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr20:16534800-16535800	Weak transcription	HMEC	breast
31	chr20:16534800-16536200	Weak transcription	Brain Hippocampus Middle	brain
32	chr20:16534800-16536600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr20:16534800-16537400	Weak transcription	Brain Substantia Nigra	brain
34	chr20:16535000-16536000	Weak transcription	Stomach Mucosa	stomach
35	chr20:16535000-16537600	Enhancers	Psoas Muscle	Psoas
36	chr20:16535200-16535600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr20:16535200-16536200	Weak transcription	Colon Smooth Muscle	Colon
38	chr20:16535200-16537400	Enhancers	Fetal Muscle Leg	muscle
39	chr20:16535200-16538400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr20:16535400-16535600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr20:16535400-16535600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr20:16535400-16535600	Enhancers	Pancreas	Pancrea
43	chr20:16535400-16535800	Enhancers	Left Ventricle	heart
44	chr20:16535400-16535800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr20:16535400-16536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr20:16535400-16537000	Weak transcription	Spleen	Spleen
47	chr20:16535400-16537400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr20:16535400-16538400	Enhancers	Right Atrium	heart

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