Variant report

Variant	rs6134870
Chromosome Location	chr20:13406166-13406167
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13404319..13406427-chr20:13433826..13436433,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1012242	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1474954	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs1474955	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs1474956	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1474957	0.91[ASN][1000 genomes]
rs1963182	0.81[ASN][1000 genomes]
rs2001178	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2057256	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2070306	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs2273477	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2876344	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2876357	0.84[ASN][1000 genomes]
rs3761889	0.84[ASN][1000 genomes]
rs3761890	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs3803973	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs3827702	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs3827703	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4813126	0.80[ASN][1000 genomes]
rs4813132	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs4813134	0.96[CHB][hapmap];0.83[JPT][hapmap]
rs4813135	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4814233	0.96[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4814234	0.96[CHB][hapmap];0.96[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4814239	0.84[ASN][1000 genomes]
rs4814246	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs529646	0.80[ASN][1000 genomes]
rs6033705	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6033722	0.87[ASN][1000 genomes]
rs6033749	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs6033756	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6042162	0.85[ASN][1000 genomes]
rs6042188	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs6042192	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs6042195	0.81[ASN][1000 genomes]
rs6042218	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs6074604	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6074605	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6074610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6074616	0.84[ASN][1000 genomes]
rs6079032	0.85[ASN][1000 genomes]
rs6079035	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6079042	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6079043	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6079048	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6079049	0.96[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs6079062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079063	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079086	0.83[ASN][1000 genomes]
rs6079097	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6079115	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6105087	1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs6105096	0.84[YRI][hapmap]
rs6105118	0.84[ASN][1000 genomes]
rs6105119	0.84[ASN][1000 genomes]
rs6109847	0.83[ASN][1000 genomes]
rs6109854	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6109858	0.96[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs6109861	0.83[ASN][1000 genomes]
rs6109862	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6109905	0.84[YRI][hapmap]
rs6109918	0.84[ASN][1000 genomes]
rs6109923	0.84[ASN][1000 genomes]
rs6109935	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6131471	0.92[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6134862	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6134895	0.84[ASN][1000 genomes]
rs6514411	0.83[ASN][1000 genomes]
rs7265499	0.85[ASN][1000 genomes]
rs743183	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs911014	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs932568	1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv178651	chr20:13402619-13410123	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
2	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13369000-13411200	Strong transcription	Dnd41	blood
4	chr20:13371400-13413600	Weak transcription	Ovary	ovary
5	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:13379000-13410200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:13379200-13463000	Weak transcription	HSMM	muscle
9	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
10	chr20:13392800-13415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr20:13393800-13411000	Weak transcription	Pancreas	Pancrea
12	chr20:13393800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr20:13394000-13415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr20:13394200-13406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:13394200-13416800	Weak transcription	Esophagus	oesophagus
16	chr20:13394200-13417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr20:13395000-13415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:13395400-13411000	Weak transcription	Spleen	Spleen
19	chr20:13395600-13416800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr20:13395600-13477800	Weak transcription	Gastric	stomach
21	chr20:13396000-13410600	Weak transcription	GM12878-XiMat	blood
22	chr20:13396000-13415000	Weak transcription	Brain Hippocampus Middle	brain
23	chr20:13396000-13417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr20:13397400-13421200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr20:13397600-13410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:13397800-13414400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr20:13397800-13415000	Weak transcription	Adipose Nuclei	Adipose
28	chr20:13398000-13407400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr20:13398000-13410800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr20:13398000-13411000	Weak transcription	Primary B cells from cord blood	blood
31	chr20:13398200-13409600	Weak transcription	Fetal Thymus	thymus
32	chr20:13398200-13410000	Weak transcription	Primary T cells from cord blood	blood
33	chr20:13398200-13410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:13398200-13410200	Weak transcription	Thymus	Thymus
35	chr20:13398200-13410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:13398200-13411000	Weak transcription	Lung	lung
37	chr20:13398200-13412000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr20:13398200-13414600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr20:13398200-13415000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr20:13398200-13415000	Weak transcription	Aorta	Aorta
41	chr20:13398200-13415000	Weak transcription	Fetal Intestine Small	intestine
42	chr20:13398200-13415000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr20:13398200-13415000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr20:13398200-13416800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr20:13398200-13417800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr20:13399600-13410800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr20:13399800-13410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr20:13399800-13430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr20:13400000-13409800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:13400600-13411000	Weak transcription	Placenta	Placenta

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