Variant report

Variant	rs9475719
Chromosome Location	chr6:56427548-56427549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1014309	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1014310	0.89[EUR][1000 genomes]
rs10456736	0.84[EUR][1000 genomes]
rs10807515	0.89[EUR][1000 genomes]
rs10949003	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12200301	0.82[EUR][1000 genomes]
rs12201550	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13197391	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1474853	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1474854	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1884284	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1884285	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1884286	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2067543	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2144405	0.89[EUR][1000 genomes]
rs28759439	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34049027	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34237663	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36017808	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6920543	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6926648	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6931836	0.82[EUR][1000 genomes]
rs7772239	0.82[EUR][1000 genomes]
rs9349829	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9349830	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9349832	0.82[EUR][1000 genomes]
rs9357924	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9367689	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9367690	0.86[ASN][1000 genomes]
rs9382645	0.87[ASN][1000 genomes]
rs9396221	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9475721	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9475722	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9475723	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9475724	0.84[EUR][1000 genomes]
rs9689355	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56440400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:56408200-56440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:56408400-56430800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:56413800-56458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:56415800-56435200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:56417000-56427800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
9	chr6:56417200-56462000	Weak transcription	Lung	lung
10	chr6:56417200-56481400	Weak transcription	Esophagus	oesophagus
11	chr6:56417400-56430000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:56417400-56435400	Weak transcription	HepG2	liver
13	chr6:56417800-56430400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:56417800-56454200	Weak transcription	Psoas Muscle	Psoas
15	chr6:56417800-56455400	Weak transcription	Gastric	stomach
16	chr6:56418000-56430200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:56418000-56435400	Weak transcription	Fetal Brain Male	brain
18	chr6:56418200-56430800	Weak transcription	NHLF	lung
19	chr6:56420400-56429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:56420400-56430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:56420400-56430800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:56420400-56434800	Weak transcription	Brain Germinal Matrix	brain
23	chr6:56420400-56457400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:56420600-56429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:56420600-56429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:56420600-56429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:56420600-56429600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:56420600-56429600	Weak transcription	Left Ventricle	heart
29	chr6:56420600-56429800	Weak transcription	Right Ventricle	heart
30	chr6:56420600-56430000	Weak transcription	Fetal Stomach	stomach
31	chr6:56420600-56430400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:56420600-56433400	Weak transcription	NHEK	skin
33	chr6:56420600-56435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:56420600-56435200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:56420600-56437600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:56420600-56440400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:56420600-56454000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:56420600-56455400	Weak transcription	Aorta	Aorta
39	chr6:56420800-56429200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:56420800-56430400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:56420800-56430600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:56420800-56438000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:56421000-56429400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:56421000-56430800	Weak transcription	A549	lung
45	chr6:56421000-56431800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:56421000-56432400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:56421000-56434600	Weak transcription	Fetal Heart	heart
48	chr6:56421800-56429400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:56422000-56434800	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:56422200-56427800	Strong transcription	HSMM	muscle

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