Variant report

Variant	rs6111050
Chromosome Location	chr20:16297472-16297473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12480966	0.87[CHB][hapmap]
rs2093005	0.84[JPT][hapmap]
rs2144901	0.94[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2180441	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs2180445	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2328015	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3887315	0.92[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4814468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4814475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6034465	0.82[CHB][hapmap]
rs6043891	0.83[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs6080217	0.87[JPT][hapmap]
rs6080222	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6111030	0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6111032	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6111042	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6111051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6111072	0.82[CHB][hapmap]
rs718843	0.87[JPT][hapmap]
rs764467	0.83[CHB][hapmap]
rs8120605	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs928145	0.87[JPT][hapmap]

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	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16254000-16298400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:16262600-16346200	Weak transcription	Gastric	stomach
3	chr20:16270800-16302400	Weak transcription	Brain Hippocampus Middle	brain
4	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:16284400-16313600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr20:16284600-16298200	Weak transcription	Primary B cells from cord blood	blood
7	chr20:16284600-16313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:16284800-16302400	Weak transcription	Brain Substantia Nigra	brain
9	chr20:16284800-16302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:16285400-16330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:16286000-16298200	Weak transcription	Ovary	ovary
12	chr20:16287000-16315200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr20:16288000-16332400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr20:16288400-16318200	Weak transcription	Pancreas	Pancrea
15	chr20:16288600-16297800	Weak transcription	Fetal Intestine Small	intestine
16	chr20:16288800-16313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr20:16288800-16318600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr20:16289200-16313800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr20:16289400-16298400	Weak transcription	Psoas Muscle	Psoas
20	chr20:16289400-16348000	Weak transcription	Colonic Mucosa	Colon
21	chr20:16289800-16297800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr20:16289800-16299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr20:16289800-16302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:16289800-16323200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr20:16290000-16298600	Weak transcription	Right Ventricle	heart
26	chr20:16290000-16298600	Weak transcription	NHEK	skin
27	chr20:16290000-16311200	Weak transcription	Primary T cells from cord blood	blood
28	chr20:16290000-16313600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr20:16290400-16313800	Weak transcription	Spleen	Spleen
30	chr20:16291200-16312800	Weak transcription	Aorta	Aorta
31	chr20:16291200-16313600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr20:16291200-16314400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr20:16291200-16317800	Weak transcription	Esophagus	oesophagus
34	chr20:16291400-16331000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr20:16292400-16298400	Weak transcription	Left Ventricle	heart
36	chr20:16292400-16309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr20:16293200-16300600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr20:16293200-16314800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr20:16294000-16318200	Weak transcription	Fetal Stomach	stomach
40	chr20:16294600-16300200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:16295600-16313600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr20:16295600-16318600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr20:16295600-16349000	Weak transcription	HepG2	liver
44	chr20:16295800-16298200	Weak transcription	Lung	lung
45	chr20:16295800-16298400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr20:16295800-16300200	Weak transcription	Fetal Muscle Leg	muscle
47	chr20:16295800-16315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr20:16296200-16297800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr20:16296200-16298600	Weak transcription	Adipose Nuclei	Adipose
50	chr20:16296200-16315400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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