Variant report

Variant	rs9370244
Chromosome Location	chr6:53796191-53796192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53794903..53796412-chr6:53797970..53799605,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1076701	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1076702	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12526194	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2073020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2076495	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2294789	0.86[AMR][1000 genomes]
rs2294790	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2294791	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3777661	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4563705	0.83[JPT][hapmap]
rs6903399	0.80[AMR][1000 genomes]
rs9349685	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9357776	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9357778	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9370233	0.94[CEU][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes]
rs9370241	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9370246	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9382238	0.83[AMR][1000 genomes]
rs9382241	0.83[AMR][1000 genomes]
rs9382243	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs9382244	0.82[AMR][1000 genomes]
rs9382246	0.82[AMR][1000 genomes]
rs9382252	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9382253	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9382254	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9382256	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9382257	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9395878	0.94[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53772000-53803000	Weak transcription	Lung	lung
2	chr6:53787800-53807800	Weak transcription	Aorta	Aorta
3	chr6:53787800-53810800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:53790600-53797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:53790600-53798000	Weak transcription	Fetal Thymus	thymus
6	chr6:53791000-53796200	Enhancers	HUVEC	blood vessel
7	chr6:53792800-53796600	Weak transcription	Placenta	Placenta
8	chr6:53792800-53797800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:53793000-53799200	Weak transcription	HSMMtube	muscle
10	chr6:53793600-53797000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:53794600-53801000	Weak transcription	Dnd41	blood
12	chr6:53794600-53807800	Weak transcription	Left Ventricle	heart
13	chr6:53794800-53803200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:53794800-53815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:53795000-53797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:53795000-53797200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:53795200-53797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:53795200-53797200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:53795200-53797600	Weak transcription	Small Intestine	intestine
20	chr6:53795200-53799200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:53795200-53803800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:53795200-53807400	Weak transcription	Fetal Stomach	stomach
23	chr6:53795400-53799200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:53795600-53826200	Weak transcription	NHEK	skin
25	chr6:53795800-53796200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:53795800-53796400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:53795800-53803000	Weak transcription	Esophagus	oesophagus

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