Variant report

Variant	rs71565797
Chromosome Location	chr6:161622949-161622950
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161620599..161623170-chr6:161633953..161636399,2	K562	blood:
2	chr6:161591767..161595162-chr6:161620326..161624402,3	K562	blood:
3	chr6:161562867..161565022-chr6:161622480..161624483,2	K562	blood:
4	chr6:161557058..161558722-chr6:161620520..161623428,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1040724	0.84[EUR][1000 genomes]
rs10499315	0.99[EUR][1000 genomes]
rs10499316	0.99[EUR][1000 genomes]
rs11961712	0.99[EUR][1000 genomes]
rs11970102	0.83[EUR][1000 genomes]
rs13192827	0.97[EUR][1000 genomes]
rs13193634	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194878	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13212679	0.94[EUR][1000 genomes]
rs13215186	0.99[EUR][1000 genomes]
rs13219494	0.99[EUR][1000 genomes]
rs13220357	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16892284	0.96[EUR][1000 genomes]
rs16892303	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17537799	0.84[EUR][1000 genomes]
rs17626731	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34620502	1.00[EUR][1000 genomes]
rs35180185	0.99[EUR][1000 genomes]
rs35267977	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35505620	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35727114	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36030076	0.94[EUR][1000 genomes]
rs4314476	0.84[EUR][1000 genomes]
rs71565796	0.99[EUR][1000 genomes]
rs7744842	0.99[EUR][1000 genomes]
rs7747618	0.97[EUR][1000 genomes]
rs7751159	0.97[EUR][1000 genomes]
rs7756321	0.97[EUR][1000 genomes]
rs7758121	0.99[EUR][1000 genomes]
rs7767737	1.00[EUR][1000 genomes]
rs7770491	0.97[EUR][1000 genomes]
rs7771961	0.99[EUR][1000 genomes]
rs9458149	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats 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	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv5575	chr6:161611584-161643479	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161585600-161626000	Weak transcription	Right Atrium	heart
2	chr6:161591400-161626200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:161599800-161647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:161600400-161626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:161601400-161636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:161602800-161626000	Weak transcription	Gastric	stomach
7	chr6:161607800-161629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:161607800-161644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:161608000-161636000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:161610600-161626000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:161610600-161635800	Weak transcription	Ovary	ovary
12	chr6:161610600-161638000	Weak transcription	Aorta	Aorta
13	chr6:161610800-161625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:161611000-161637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:161614400-161625000	Weak transcription	NH-A	brain
16	chr6:161615600-161623200	Weak transcription	Left Ventricle	heart
17	chr6:161615600-161626200	Weak transcription	Esophagus	oesophagus
18	chr6:161615800-161624800	Weak transcription	Fetal Kidney	kidney
19	chr6:161615800-161630000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:161616000-161627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:161616400-161625000	Weak transcription	Fetal Heart	heart
22	chr6:161617200-161623000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:161618400-161623000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:161618600-161623000	Enhancers	Brain Anterior Caudate	brain
25	chr6:161618600-161625600	Weak transcription	Fetal Stomach	stomach
26	chr6:161618800-161623200	Weak transcription	Lung	lung
27	chr6:161618800-161624000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:161619200-161624400	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:161619400-161623000	Enhancers	Brain Hippocampus Middle	brain
30	chr6:161619400-161624400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:161619600-161625600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:161619600-161626200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:161619600-161626600	Enhancers	Brain Angular Gyrus	brain
34	chr6:161619800-161623000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:161619800-161632800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:161620000-161626000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:161620600-161623000	Enhancers	Primary B cells from peripheral blood	blood
38	chr6:161620600-161623000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:161620600-161624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:161620600-161624200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:161621600-161624000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:161621800-161623200	Strong transcription	Primary T cells from cord blood	blood
43	chr6:161621800-161626000	Weak transcription	Fetal Brain Female	brain
44	chr6:161622000-161623600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:161622000-161624200	Enhancers	Brain Substantia Nigra	brain
46	chr6:161622000-161625600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:161622000-161625600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:161622000-161625600	Weak transcription	Brain Germinal Matrix	brain
49	chr6:161622200-161623000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:161622200-161625000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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