Variant report

Variant	rs16845819
Chromosome Location	chr1:173362284-173362285
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	chr1:173354554..173358698-chr1:173361290..173364638,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10399614	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11804254	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12085083	0.87[CHB][hapmap]
rs1361648	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1539256	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1539257	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16845679	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16845685	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16845722	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16845795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3934577	0.87[CHB][hapmap]
rs55882207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56307807	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56309152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6678064	0.81[CHB][hapmap]
rs6688438	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6700269	0.87[CHB][hapmap]
rs6702339	0.87[CHB][hapmap]
rs7534736	0.80[CHB][hapmap]
rs7550607	0.95[EUR][1000 genomes];0.85[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16845819	CENPL	cis	lymphoblastoid	seeQTL
rs16845819	NME7	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173345600-173368000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173346800-173363800	Weak transcription	Aorta	Aorta
3	chr1:173347200-173375000	Weak transcription	Spleen	Spleen
4	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart
5	chr1:173354000-173379800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:173354800-173363800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:173354800-173376000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:173355400-173379800	Weak transcription	Pancreas	Pancrea
9	chr1:173356400-173371400	Weak transcription	GM12878-XiMat	blood
10	chr1:173360600-173363000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:173360600-173364000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:173360800-173363400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:173361000-173362400	Enhancers	HSMM	muscle
14	chr1:173361200-173362800	Enhancers	Fetal Lung	lung
15	chr1:173361600-173362600	Enhancers	NHDF-Ad	bronchial
16	chr1:173361600-173363000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:173361600-173363400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:173361600-173363600	Enhancers	Osteobl	bone
19	chr1:173361600-173368400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:173361800-173363000	Enhancers	NH-A	brain
21	chr1:173362000-173362400	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:173362000-173362800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:173362000-173362800	Enhancers	Fetal Heart	heart
24	chr1:173362000-173363000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:173362000-173363000	Enhancers	Hela-S3	cervix
26	chr1:173362000-173363000	Enhancers	HMEC	breast
27	chr1:173362000-173363000	Enhancers	K562	blood
28	chr1:173362000-173363000	Enhancers	NHEK	skin
29	chr1:173362000-173363000	Enhancers	NHLF	lung
30	chr1:173362000-173363400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:173362000-173364200	Enhancers	HSMMtube	muscle
32	chr1:173362200-173362400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:173362200-173362400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:173362200-173362400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:173362200-173362600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:173362200-173362600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:173362200-173362600	Enhancers	Esophagus	oesophagus
38	chr1:173362200-173362600	Enhancers	HUVEC	blood vessel
39	chr1:173362200-173362800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:173362200-173362800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:173362200-173362800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:173362200-173362800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:173362200-173362800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:173362200-173362800	Enhancers	Placenta	Placenta
45	chr1:173362200-173362800	Enhancers	Left Ventricle	heart
46	chr1:173362200-173362800	Flanking Active TSS	A549	lung
47	chr1:173362200-173363000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:173362200-173363000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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