Variant report

Variant	rs17007362
Chromosome Location	chr1:220474249-220474250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
2	chr1:220445466..220447229-chr1:220473362..220475083,2	K562	blood:
3	chr1:220463505..220465025-chr1:220472451..220474318,2	K562	blood:
4	chr1:220472146..220476352-chr1:220476366..220479931,4	K562	blood:
5	chr1:220444172..220447229-chr1:220471859..220475083,5	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10779403	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11118517	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11118519	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12409579	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12411005	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473073	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1567602	0.87[ASN][1000 genomes]
rs17007491	0.87[ASN][1000 genomes]
rs17007517	0.84[ASN][1000 genomes]
rs2048481	0.87[ASN][1000 genomes]
rs2244072	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4846621	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61830458	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61830864	0.87[ASN][1000 genomes]
rs61830865	0.87[ASN][1000 genomes]
rs61832260	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61832262	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6541128	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6541130	0.93[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7529864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7554794	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9793772	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220472600-220474400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:220473200-220474800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:220473400-220474400	Enhancers	Fetal Muscle Leg	muscle
4	chr1:220473400-220474600	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:220473400-220474800	Enhancers	HUVEC	blood vessel
6	chr1:220473400-220475200	Enhancers	NH-A	brain
7	chr1:220473400-220475400	Enhancers	NHDF-Ad	bronchial
8	chr1:220473600-220474400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:220473600-220474400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:220473600-220474400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:220473600-220474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:220473600-220474400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:220473600-220474400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:220473600-220474400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:220473600-220474400	Enhancers	HMEC	breast
16	chr1:220473600-220474400	Enhancers	NHLF	lung
17	chr1:220473600-220474600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:220473600-220474600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:220473800-220474400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:220473800-220474400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:220473800-220474400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:220473800-220474400	Active TSS	Aorta	Aorta
23	chr1:220473800-220474400	Enhancers	Fetal Kidney	kidney
24	chr1:220473800-220474400	Enhancers	Fetal Lung	lung
25	chr1:220473800-220474400	Enhancers	Lung	lung
26	chr1:220473800-220474400	Flanking Active TSS	K562	blood
27	chr1:220473800-220474600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:220473800-220474600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:220473800-220474600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:220473800-220474600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:220473800-220474600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:220473800-220474600	Enhancers	Left Ventricle	heart
33	chr1:220473800-220474800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:220473800-220475000	Enhancers	Fetal Heart	heart
35	chr1:220474000-220474400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:220474000-220474400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:220474000-220474400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr1:220474000-220474400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:220474000-220474400	Flanking Active TSS	NHEK	skin
40	chr1:220474000-220474400	Flanking Active TSS	Osteobl	bone
41	chr1:220474000-220474800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:220474000-220475000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:220474000-220475000	Enhancers	Hela-S3	cervix
44	chr1:220474200-220474400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:220474200-220474400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:220474200-220474400	Enhancers	Brain Anterior Caudate	brain
47	chr1:220474200-220474400	Enhancers	Brain Hippocampus Middle	brain
48	chr1:220474200-220474400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220474200-220474400	Enhancers	Fetal Brain Male	brain
50	chr1:220474200-220474400	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links