Variant report

Variant	rs7634340
Chromosome Location	chr3:70121452-70121453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1021413	0.83[JPT][hapmap]
rs1027233	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1027234	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1157456	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11923682	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11926368	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12495230	0.89[CEU][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1388649	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1491686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1491695	0.85[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1491698	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1492055	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1492056	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1546075	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1873583	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1873584	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2131122	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2172211	0.83[JPT][hapmap]
rs28524674	0.87[AMR][1000 genomes]
rs3821364	0.83[JPT][hapmap]
rs4855453	0.83[JPT][hapmap]
rs6549261	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6549262	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6549264	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6549265	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6549266	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6772684	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6784666	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6809508	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7634564	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7647661	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7651972	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9310178	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9310179	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9310180	0.89[CEU][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs956436	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9809122	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9815287	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9834141	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9839734	0.87[AMR][1000 genomes]
rs9840397	0.87[AMR][1000 genomes]
rs9840590	0.87[AMR][1000 genomes]
rs9840951	0.82[AMR][1000 genomes]
rs9849031	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9851891	0.93[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9863457	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9868203	0.87[AMR][1000 genomes];0.81[EUR][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	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7634340	RP11-460N16.1	cis	Artery Aorta	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70113800-70123800	Weak transcription	Gastric	stomach
2	chr3:70120200-70121800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:70120200-70121800	Active TSS	Brain Angular Gyrus	brain
4	chr3:70120400-70121600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:70120400-70121600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:70120400-70121600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:70120400-70121600	Active TSS	Brain Cingulate Gyrus	brain
8	chr3:70120400-70121800	Active TSS	Brain Hippocampus Middle	brain
9	chr3:70120400-70121800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:70120400-70121800	Active TSS	Stomach Smooth Muscle	stomach
11	chr3:70120600-70121600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:70120600-70121600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr3:70120600-70121800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:70120600-70121800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr3:70120600-70121800	Active TSS	Brain Substantia Nigra	brain
16	chr3:70120800-70121600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:70120800-70121800	Active TSS	Aorta	Aorta
18	chr3:70120800-70122400	Enhancers	HepG2	liver
19	chr3:70121000-70121600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr3:70121000-70121600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:70121000-70121600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
22	chr3:70121000-70121600	Bivalent/Poised TSS	NH-A	brain
23	chr3:70121000-70121800	Active TSS	Ovary	ovary
24	chr3:70121000-70121800	Active TSS	Right Atrium	heart
25	chr3:70121000-70124200	Weak transcription	Fetal Heart	heart
26	chr3:70121200-70121600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:70121200-70121600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr3:70121200-70121600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:70121200-70121600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:70121200-70121600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr3:70121200-70121600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:70121200-70121600	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr3:70121200-70121600	Active TSS	Liver	Liver
34	chr3:70121200-70121600	Bivalent/Poised TSS	Fetal Lung	lung
35	chr3:70121200-70121600	Active TSS	Fetal Stomach	stomach
36	chr3:70121200-70121600	Enhancers	Psoas Muscle	Psoas
37	chr3:70121200-70121600	Active TSS	Right Ventricle	heart
38	chr3:70121200-70121600	Active TSS	A549	lung
39	chr3:70121200-70121600	Bivalent/Poised TSS	HUVEC	blood vessel
40	chr3:70121200-70121600	Active TSS	NHLF	lung
41	chr3:70121200-70121600	Bivalent/Poised TSS	Osteobl	bone
42	chr3:70121200-70121800	Active TSS	Brain Anterior Caudate	brain
43	chr3:70121200-70121800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr3:70121200-70122000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:70121200-70122000	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr3:70121400-70121600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr3:70121400-70121600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:70121400-70121600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:70121400-70121600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
50	chr3:70121400-70121600	Bivalent/Poised TSS	Fetal Kidney	kidney

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