Variant report

Variant	rs7273594
Chromosome Location	chr20:16302535-16302536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11906521	0.83[YRI][hapmap]
rs12479724	0.84[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12479738	0.83[ASN][1000 genomes]
rs12480966	0.86[ASW][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2093005	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2144892	0.83[CHB][hapmap]
rs2180441	0.86[JPT][hapmap]
rs3746783	0.90[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap]
rs56777466	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60041954	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6043891	0.86[JPT][hapmap]
rs60635180	0.83[ASN][1000 genomes]
rs6080217	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6514674	0.83[ASN][1000 genomes]
rs6514675	0.84[ASN][1000 genomes]
rs718842	0.83[ASN][1000 genomes]
rs718843	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs718844	0.83[ASN][1000 genomes]
rs73597760	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73597763	0.97[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73597764	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs764467	0.85[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.85[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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16262600-16346200	Weak transcription	Gastric	stomach
2	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
3	chr20:16284400-16313600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr20:16284600-16313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:16284800-16302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:16285400-16330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:16287000-16315200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr20:16288000-16332400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr20:16288400-16318200	Weak transcription	Pancreas	Pancrea
10	chr20:16288800-16313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr20:16288800-16318600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr20:16289200-16313800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr20:16289400-16348000	Weak transcription	Colonic Mucosa	Colon
14	chr20:16289800-16323200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr20:16290000-16311200	Weak transcription	Primary T cells from cord blood	blood
16	chr20:16290000-16313600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr20:16290400-16313800	Weak transcription	Spleen	Spleen
18	chr20:16291200-16312800	Weak transcription	Aorta	Aorta
19	chr20:16291200-16313600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr20:16291200-16314400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr20:16291200-16317800	Weak transcription	Esophagus	oesophagus
22	chr20:16291400-16331000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr20:16292400-16309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr20:16293200-16314800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr20:16294000-16318200	Weak transcription	Fetal Stomach	stomach
26	chr20:16295600-16313600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr20:16295600-16318600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:16295600-16349000	Weak transcription	HepG2	liver
29	chr20:16295800-16315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr20:16296200-16315400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr20:16296400-16308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr20:16296400-16311600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr20:16296400-16312200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr20:16296600-16313800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr20:16296600-16345200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:16296800-16318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr20:16298600-16313400	Weak transcription	Ovary	ovary
38	chr20:16298800-16333400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr20:16299200-16308200	Weak transcription	Psoas Muscle	Psoas
40	chr20:16299200-16311600	Weak transcription	Left Ventricle	heart
41	chr20:16299200-16313000	Weak transcription	Adipose Nuclei	Adipose
42	chr20:16300400-16305600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr20:16301200-16317400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr20:16301600-16314000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr20:16302000-16302600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr20:16302000-16302800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr20:16302200-16302600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr20:16302400-16302800	Enhancers	Brain Substantia Nigra	brain
49	chr20:16302400-16303000	Enhancers	Brain Hippocampus Middle	brain

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