Variant report

Variant	rs10429164
Chromosome Location	chr7:80240562-80240563
allele	C/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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10428893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499857	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10499858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10669209	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1133344	0.90[ASN][1000 genomes]
rs11768747	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11768817	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11771839	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11772036	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11971740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11971793	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11972894	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11974227	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11974777	0.81[AMR][1000 genomes]
rs12113010	0.93[EUR][1000 genomes]
rs1334511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1360741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1534314	0.98[EUR][1000 genomes]
rs17154130	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17154181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1924	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3173798	0.98[EUR][1000 genomes]
rs3173799	0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3211817	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3211828	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3211830	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3211838	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3211851	0.84[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3211867	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3211868	0.98[EUR][1000 genomes]
rs3211869	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3211875	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3212162	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212163	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35179913	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41364549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4410854	0.95[EUR][1000 genomes]
rs58408258	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60133848	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60854150	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960369	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9784998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9918530	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9918586	0.95[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80234600-80240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
3	chr7:80236800-80241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:80237000-80241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:80237000-80241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:80237600-80242800	Enhancers	Liver	Liver
7	chr7:80237600-80243000	Enhancers	Fetal Heart	heart
8	chr7:80238600-80240800	Enhancers	Left Ventricle	heart
9	chr7:80239200-80242200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr7:80239400-80240600	Weak transcription	Lung	lung
11	chr7:80239400-80240800	Weak transcription	Ovary	ovary
12	chr7:80239400-80241400	Enhancers	Adipose Nuclei	Adipose
13	chr7:80239400-80244600	Weak transcription	Right Atrium	heart
14	chr7:80239600-80240600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:80239600-80240800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:80240000-80241600	Enhancers	Fetal Intestine Large	intestine
17	chr7:80240000-80241600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:80240200-80240600	Enhancers	A549	lung
19	chr7:80240200-80241200	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:80240200-80241400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:80240200-80241400	Enhancers	Fetal Muscle Leg	muscle
22	chr7:80240200-80241800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:80240400-80240600	Enhancers	Pancreas	Pancrea
24	chr7:80240400-80241000	Enhancers	Psoas Muscle	Psoas
25	chr7:80240400-80241000	Enhancers	Spleen	Spleen
26	chr7:80240400-80241200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:80240400-80241200	Enhancers	Small Intestine	intestine
28	chr7:80240400-80241200	Flanking Active TSS	HepG2	liver
29	chr7:80240400-80241400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:80240400-80241400	Enhancers	Fetal Stomach	stomach
31	chr7:80240400-80241600	Enhancers	Fetal Lung	lung
32	chr7:80240400-80242200	Enhancers	Stomach Mucosa	stomach
33	chr7:80240400-80242600	Enhancers	Osteobl	bone
34	chr7:80240400-80244600	Weak transcription	Right Ventricle	heart
35	chr7:80240400-80245000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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