Variant report

Variant	rs8120605
Chromosome Location	chr20:16282123-16282124
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12479738	0.82[ASN][1000 genomes]
rs12480966	0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs1884597	0.84[CHD][hapmap]
rs2093005	0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs2144901	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2180441	0.82[CHB][hapmap]
rs2180445	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs2328015	0.86[CHB][hapmap]
rs2876427	0.81[CHD][hapmap]
rs3887315	0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4814468	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs4814475	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs6043869	0.82[JPT][hapmap]
rs60635180	0.82[ASN][1000 genomes]
rs6075042	0.81[JPT][hapmap]
rs6080206	0.81[JPT][hapmap]
rs6080208	0.81[JPT][hapmap]
rs6080217	0.82[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs6080222	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6111030	0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6111032	0.83[ASN][1000 genomes]
rs6111042	0.90[CHB][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs6111050	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs6111051	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs6111052	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs6514674	0.82[ASN][1000 genomes]
rs6514675	0.81[ASN][1000 genomes]
rs718842	0.82[ASN][1000 genomes]
rs718843	0.82[ASN][1000 genomes]
rs718844	0.82[ASN][1000 genomes]
rs73597763	0.80[ASN][1000 genomes]
rs764467	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs928145	0.81[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16247600-16290800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr20:16248600-16291400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:16252000-16289400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr20:16252400-16283000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr20:16254000-16290800	Weak transcription	Esophagus	oesophagus
6	chr20:16254000-16298400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:16254200-16284200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr20:16255400-16283000	Weak transcription	Fetal Lung	lung
9	chr20:16262600-16285400	Weak transcription	Ovary	ovary
10	chr20:16262600-16346200	Weak transcription	Gastric	stomach
11	chr20:16264600-16284000	Weak transcription	Aorta	Aorta
12	chr20:16264800-16290800	Weak transcription	Lung	lung
13	chr20:16265000-16283800	Weak transcription	Primary B cells from cord blood	blood
14	chr20:16265000-16289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:16265200-16282600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr20:16265600-16282800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr20:16265600-16284200	Weak transcription	Left Ventricle	heart
18	chr20:16265800-16282200	Weak transcription	Psoas Muscle	Psoas
19	chr20:16265800-16289200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr20:16270800-16302400	Weak transcription	Brain Hippocampus Middle	brain
21	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
22	chr20:16277800-16286200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:16281600-16284600	ZNF genes & repeats	Liver	Liver
24	chr20:16282000-16286600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr20:16282000-16287400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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