Variant report

Variant	rs1722505
Chromosome Location	chr7:80240689-80240690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80239752..80242160-chr7:80242540..80244695,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10480808	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1049654	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10499859	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1054516	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs11770358	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770907	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11771152	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1194177	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1194178	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1194179	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1194182	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12706912	0.89[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs13233631	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13236689	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs13438282	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1358337	0.89[CEU][hapmap];1.00[GIH][hapmap]
rs1413661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527479	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537477	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154155	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1722502	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1761661	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1761662	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1761665	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1761667	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953298	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953299	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2366855	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3211821	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3211839	0.89[ASN][1000 genomes]
rs3211842	0.89[CEU][hapmap]
rs3211849	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3211870	0.89[CEU][hapmap]
rs3211885	0.88[CEU][hapmap]
rs3212160	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4316098	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4545029	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4626520	0.96[EUR][1000 genomes]
rs4728183	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731643	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6961024	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6961069	0.92[ASN][1000 genomes]
rs7807607	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs819435	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs819436	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs819437	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs819441	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
2	chr7:80236800-80241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:80237000-80241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:80237000-80241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:80237600-80242800	Enhancers	Liver	Liver
6	chr7:80237600-80243000	Enhancers	Fetal Heart	heart
7	chr7:80238600-80240800	Enhancers	Left Ventricle	heart
8	chr7:80239200-80242200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:80239400-80240800	Weak transcription	Ovary	ovary
10	chr7:80239400-80241400	Enhancers	Adipose Nuclei	Adipose
11	chr7:80239400-80244600	Weak transcription	Right Atrium	heart
12	chr7:80239600-80240800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:80240000-80241600	Enhancers	Fetal Intestine Large	intestine
14	chr7:80240000-80241600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:80240200-80241200	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:80240200-80241400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:80240200-80241400	Enhancers	Fetal Muscle Leg	muscle
18	chr7:80240200-80241800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:80240400-80241000	Enhancers	Psoas Muscle	Psoas
20	chr7:80240400-80241000	Enhancers	Spleen	Spleen
21	chr7:80240400-80241200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:80240400-80241200	Enhancers	Small Intestine	intestine
23	chr7:80240400-80241200	Flanking Active TSS	HepG2	liver
24	chr7:80240400-80241400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:80240400-80241400	Enhancers	Fetal Stomach	stomach
26	chr7:80240400-80241600	Enhancers	Fetal Lung	lung
27	chr7:80240400-80242200	Enhancers	Stomach Mucosa	stomach
28	chr7:80240400-80242600	Enhancers	Osteobl	bone
29	chr7:80240400-80244600	Weak transcription	Right Ventricle	heart
30	chr7:80240400-80245000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:80240600-80240800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:80240600-80240800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:80240600-80240800	Enhancers	Lung	lung
34	chr7:80240600-80241200	Flanking Active TSS	A549	lung
35	chr7:80240600-80241600	Enhancers	Brain Substantia Nigra	brain
36	chr7:80240600-80241600	Enhancers	NHDF-Ad	bronchial
37	chr7:80240600-80242200	Weak transcription	Pancreas	Pancrea
38	chr7:80240600-80245200	Enhancers	Hela-S3	cervix

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