Variant report

Variant	rs315547
Chromosome Location	chr1:84831790-84831791
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	chr1:84814848..84816393-chr1:84831127..84833005,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1067072	0.92[ASN][1000 genomes]
rs11805246	0.81[EUR][1000 genomes]
rs1246546	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs1246549	0.90[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs1246550	0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs160612	0.96[ASN][1000 genomes]
rs1690702	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1699157	0.92[ASN][1000 genomes]
rs170278	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17131613	0.93[GIH][hapmap]
rs172735	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.99[ASN][1000 genomes]
rs178367	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.99[ASN][1000 genomes]
rs178368	0.93[ASN][1000 genomes]
rs186405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs315520	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315521	0.93[ASN][1000 genomes]
rs315522	0.93[ASN][1000 genomes]
rs315523	0.93[ASN][1000 genomes]
rs315524	0.93[ASN][1000 genomes]
rs315525	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315527	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs315528	0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs315530	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315531	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.99[ASN][1000 genomes]
rs315532	0.97[ASN][1000 genomes]
rs315533	0.99[ASN][1000 genomes]
rs315535	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs315536	0.93[ASN][1000 genomes]
rs315538	0.93[ASN][1000 genomes]
rs315539	0.99[ASN][1000 genomes]
rs315540	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs315541	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs315542	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs315546	0.93[ASN][1000 genomes]
rs315548	0.93[ASN][1000 genomes]
rs315549	0.93[ASN][1000 genomes]
rs315552	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.99[ASN][1000 genomes]
rs315553	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.99[ASN][1000 genomes]
rs315554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs315555	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs316660	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316661	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs316663	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs316665	0.92[ASN][1000 genomes]
rs511087	0.93[ASN][1000 genomes]
rs575277	0.95[EUR][1000 genomes]
rs592464	0.92[ASN][1000 genomes]
rs642774	0.93[EUR][1000 genomes]
rs6670075	0.81[EUR][1000 genomes]
rs7521357	0.81[EUR][1000 genomes]
rs786653	0.94[AMR][1000 genomes];1.00[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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs315547	HIVEP2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84828400-84836400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84829200-84832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:84829800-84836800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:84829800-84840400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:84830200-84833200	Enhancers	HUVEC	blood vessel
6	chr1:84830400-84832000	Enhancers	NHEK	skin
7	chr1:84830800-84832200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:84830800-84832600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:84830800-84832600	Enhancers	HMEC	breast
10	chr1:84830800-84832600	Enhancers	NH-A	brain
11	chr1:84830800-84832800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:84830800-84832800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:84830800-84833000	Enhancers	HSMM	muscle
14	chr1:84830800-84833200	Enhancers	Osteobl	bone
15	chr1:84830800-84833400	Enhancers	NHDF-Ad	bronchial
16	chr1:84830800-84833400	Enhancers	NHLF	lung
17	chr1:84830800-84833600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:84830800-84833600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:84831000-84831800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:84831000-84831800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:84831000-84832000	Enhancers	Small Intestine	intestine
22	chr1:84831000-84832200	Enhancers	K562	blood
23	chr1:84831000-84832400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:84831000-84832400	Enhancers	Fetal Intestine Small	intestine
25	chr1:84831000-84832400	Enhancers	Stomach Mucosa	stomach
26	chr1:84831000-84833000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:84831000-84833200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:84831000-84833200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:84831000-84838000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:84831200-84831800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:84831200-84833200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:84831200-84836400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:84831400-84831800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:84831400-84831800	Flanking Active TSS	A549	lung
35	chr1:84831400-84832000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:84831400-84832000	Enhancers	Pancreas	Pancrea
37	chr1:84831400-84832000	Enhancers	HSMMtube	muscle
38	chr1:84831400-84832600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:84831600-84831800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:84831600-84832000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:84831600-84832000	Enhancers	Fetal Intestine Large	intestine
42	chr1:84831600-84832000	Enhancers	Gastric	stomach
43	chr1:84831600-84832000	Enhancers	Lung	lung
44	chr1:84831600-84832000	Enhancers	Psoas Muscle	Psoas
45	chr1:84831600-84832000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr1:84831600-84832000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:84831600-84832000	Flanking Active TSS	Hela-S3	cervix
48	chr1:84831600-84832200	Enhancers	Placenta	Placenta
49	chr1:84831600-84832400	Enhancers	Adipose Nuclei	Adipose
50	chr1:84831600-84832600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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