Variant report

Variant	rs71569395
Chromosome Location	chr6:37862813-37862814
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37858734..37860389-chr6:37862492..37865486,2	MCF-7	breast:
2	chr6:37862675..37865303-chr6:37870950..37872525,2	K562	blood:
3	chr6:37854831..37859248-chr6:37860232..37864769,4	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11964613	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11964671	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11968604	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11970017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11970145	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13198459	0.87[EUR][1000 genomes]
rs13200310	0.83[EUR][1000 genomes]
rs13203867	0.87[EUR][1000 genomes]
rs13205214	0.83[ASN][1000 genomes]
rs13207526	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13210967	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13211881	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13218158	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13219500	0.87[EUR][1000 genomes]
rs16890185	0.83[ASN][1000 genomes]
rs16890194	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2103950	0.83[ASN][1000 genomes]
rs2395689	0.87[EUR][1000 genomes]
rs2453882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2645096	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2645098	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2645104	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2645115	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645118	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2645121	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2645123	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2645126	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28385568	0.87[EUR][1000 genomes]
rs2842498	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2842499	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842511	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2842512	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2842513	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842514	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842524	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs33997846	0.87[EUR][1000 genomes]
rs34011349	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34054102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34449592	0.83[EUR][1000 genomes]
rs34611895	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34618835	0.87[EUR][1000 genomes]
rs34634043	0.87[EUR][1000 genomes]
rs34745343	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35051126	0.87[EUR][1000 genomes]
rs35248825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35330991	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35379375	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35465740	0.87[EUR][1000 genomes]
rs35575717	0.87[EUR][1000 genomes]
rs35609407	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35653300	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35849984	0.96[ASN][1000 genomes]
rs35953900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35955196	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36069529	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4394213	0.87[EUR][1000 genomes]
rs4711518	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56391784	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56678832	0.87[EUR][1000 genomes]
rs6910837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911481	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6912250	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6917736	0.83[EUR][1000 genomes]
rs6918802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6919884	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6923132	0.87[EUR][1000 genomes]
rs6923254	0.87[EUR][1000 genomes]
rs6925563	0.87[EUR][1000 genomes]
rs71569397	0.87[EUR][1000 genomes]
rs7742379	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7747538	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7757560	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7760770	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7776025	0.87[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
2	chr6:37850600-37865800	Weak transcription	HSMMtube	muscle
3	chr6:37850600-37869200	Weak transcription	Lung	lung
4	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:37850800-37865200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:37851000-37866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:37851000-37868800	Weak transcription	Ovary	ovary
8	chr6:37851000-37869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:37855600-37865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:37856000-37871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:37857000-37865200	Weak transcription	HepG2	liver
13	chr6:37857200-37865000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:37857200-37865000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:37857200-37871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:37857200-37871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:37857200-37871400	Weak transcription	Aorta	Aorta
18	chr6:37857400-37865000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:37857400-37871800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:37857600-37863400	Weak transcription	Liver	Liver
21	chr6:37857600-37863600	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:37857600-37871800	Weak transcription	Right Atrium	heart
23	chr6:37857600-37871800	Weak transcription	Stomach Mucosa	stomach
24	chr6:37857600-37872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:37857600-37886000	Weak transcription	Esophagus	oesophagus
26	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
27	chr6:37857800-37864400	Weak transcription	NH-A	brain
28	chr6:37858000-37877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:37858200-37864400	Weak transcription	Psoas Muscle	Psoas
30	chr6:37858200-37869400	Weak transcription	Left Ventricle	heart
31	chr6:37858200-37871200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:37858400-37864000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:37858400-37864000	Weak transcription	NHEK	skin
34	chr6:37858800-37864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:37859000-37864400	Weak transcription	HMEC	breast
36	chr6:37859000-37865000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:37859200-37864000	Weak transcription	A549	lung
38	chr6:37861200-37865000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:37861200-37865400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:37861400-37863200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:37861600-37865000	Weak transcription	Hela-S3	cervix
42	chr6:37862000-37871800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:37862000-37877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:37862200-37863600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:37862400-37864200	Weak transcription	Placenta	Placenta
46	chr6:37862400-37864400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:37862400-37865400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:37862400-37877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:37862400-37884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:37862600-37863200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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