Variant report

Variant	rs7030393
Chromosome Location	chr9:72198114-72198115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10123008	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10746682	0.92[CHB][hapmap]
rs10780527	0.83[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10780528	0.83[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10780539	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs10867825	0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs10867828	0.92[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10867830	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs11139338	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11139361	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11139511	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1330334	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1411440	0.86[JPT][hapmap]
rs1556211	0.88[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1854702	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1854703	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1967880	0.83[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1970017	0.83[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2026150	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs2161056	0.85[JPT][hapmap]
rs2309515	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs3927538	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4744913	0.84[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4744914	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4744917	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744918	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4744919	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6559643	0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7031694	0.86[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs72719029	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7350265	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7850006	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7853783	0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7864173	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7871895	0.87[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs986352	0.82[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs987653	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	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	chr9:72180400-72208400	Weak transcription	Gastric	stomach
2	chr9:72186200-72200800	Weak transcription	HSMMtube	muscle
3	chr9:72187400-72204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72187800-72198600	Weak transcription	NHDF-Ad	bronchial
5	chr9:72188800-72198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:72189400-72199200	Weak transcription	NH-A	brain
7	chr9:72193200-72204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:72193400-72200200	Weak transcription	Right Ventricle	heart
9	chr9:72195000-72198800	Enhancers	Left Ventricle	heart
10	chr9:72195400-72198400	Enhancers	Liver	Liver
11	chr9:72195400-72200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:72195400-72200600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:72195800-72208200	Weak transcription	Fetal Lung	lung
14	chr9:72196000-72204800	Weak transcription	Fetal Brain Male	brain
15	chr9:72196200-72204800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:72196400-72199400	Enhancers	Fetal Heart	heart
17	chr9:72196400-72201000	Enhancers	HUVEC	blood vessel
18	chr9:72196800-72198400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:72197000-72198200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:72197000-72198200	Enhancers	NHEK	skin
21	chr9:72197200-72198200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:72197200-72198200	Enhancers	Adipose Nuclei	Adipose
23	chr9:72197200-72198400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:72197200-72201000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:72197400-72198200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:72197400-72198200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:72197400-72198200	Enhancers	Esophagus	oesophagus
28	chr9:72197400-72198800	Weak transcription	Brain Angular Gyrus	brain
29	chr9:72197400-72199000	Enhancers	Right Atrium	heart
30	chr9:72197400-72199200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:72197600-72198200	Enhancers	Placenta	Placenta
32	chr9:72197800-72199400	Weak transcription	Osteobl	bone
33	chr9:72198000-72198200	Enhancers	Stomach Mucosa	stomach
34	chr9:72198000-72198400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr9:72198000-72199000	Enhancers	Brain Germinal Matrix	brain

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