Variant report

Variant	rs73485171
Chromosome Location	chr6:71253590-71253591
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs4084006	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57211713	1.00[AFR][1000 genomes]
rs57247959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57627989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58125338	1.00[AMR][1000 genomes]
rs58605827	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60954115	1.00[AFR][1000 genomes]
rs6906657	1.00[AMR][1000 genomes]
rs73472767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472783	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472786	1.00[AMR][1000 genomes]
rs73472788	1.00[AMR][1000 genomes]
rs73472800	1.00[AMR][1000 genomes]
rs73474931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474964	1.00[AMR][1000 genomes]
rs73474983	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73478818	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482575	0.82[AFR][1000 genomes]
rs73485119	0.82[AFR][1000 genomes]
rs73485122	0.82[AFR][1000 genomes]
rs73485130	0.82[AFR][1000 genomes]
rs73485141	1.00[AFR][1000 genomes]
rs73485161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752725	1.00[AMR][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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71210600-71262000	Weak transcription	Fetal Thymus	thymus
2	chr6:71214000-71256600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
5	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:71214400-71257000	Weak transcription	Brain Anterior Caudate	brain
7	chr6:71214400-71262000	Weak transcription	Psoas Muscle	Psoas
8	chr6:71214600-71276000	Weak transcription	A549	lung
9	chr6:71215000-71273000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:71216200-71262200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:71219000-71258800	Weak transcription	Small Intestine	intestine
12	chr6:71228600-71276000	Weak transcription	Primary T cells from cord blood	blood
13	chr6:71229600-71276200	Weak transcription	Aorta	Aorta
14	chr6:71231200-71268000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:71231800-71257200	Weak transcription	Fetal Heart	heart
16	chr6:71233400-71256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:71234800-71256600	Weak transcription	HepG2	liver
18	chr6:71235600-71258200	Weak transcription	Liver	Liver
19	chr6:71236400-71273200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:71237000-71276200	Weak transcription	Left Ventricle	heart
21	chr6:71237600-71257400	Weak transcription	Osteobl	bone
22	chr6:71240600-71254000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:71240800-71253800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:71240800-71256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:71241600-71257400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:71242800-71257400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:71243400-71276200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:71243600-71259800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:71245400-71254000	Weak transcription	Fetal Stomach	stomach
30	chr6:71245400-71257200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:71245400-71258800	Weak transcription	Lung	lung
32	chr6:71245400-71261400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:71245400-71270600	Weak transcription	Adipose Nuclei	Adipose
34	chr6:71245400-71276400	Weak transcription	Esophagus	oesophagus
35	chr6:71245400-71276400	Weak transcription	Gastric	stomach
36	chr6:71245600-71256000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:71245600-71276200	Weak transcription	Primary B cells from cord blood	blood
38	chr6:71247600-71257400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:71248200-71254600	Strong transcription	Fetal Intestine Large	intestine
40	chr6:71249000-71257400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:71249200-71254400	Weak transcription	GM12878-XiMat	blood
42	chr6:71249200-71256000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:71249200-71258400	Weak transcription	NHEK	skin
44	chr6:71249200-71268200	Weak transcription	Fetal Lung	lung
45	chr6:71249200-71273000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:71249200-71275800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:71249400-71255400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:71249400-71256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:71249400-71266800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:71249400-71276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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