Variant report

Variant	rs7217797
Chromosome Location	chr17:20895971-20895972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20895064..20900549-chr17:20901410..20906180,6	K562	blood:
2	chr17:20895463..20898047-chr17:20898321..20900254,2	K562	blood:
3	chr17:20847224..20848217-chr17:20895812..20896910,8	MCF-7	breast:
4	chr17:20704648..20705333-chr17:20895940..20896489,2	MCF-7	breast:
5	chr17:20846131..20848515-chr17:20895317..20897201,2	MCF-7	breast:
6	chr17:20889603..20892267-chr17:20894765..20897394,3	MCF-7	breast:
7	chr17:20893363..20896072-chr17:20898999..20901703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263986	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1045215	0.84[CEU][hapmap];0.83[CHB][hapmap]
rs10512423	0.83[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs11204325	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11204327	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11204329	0.81[CHB][hapmap];0.89[AMR][1000 genomes]
rs11541311	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs11650623	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11651078	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11651500	0.85[AMR][1000 genomes]
rs11652224	0.85[AMR][1000 genomes]
rs11653213	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11653504	0.85[AMR][1000 genomes]
rs11654801	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs11655512	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11656525	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11656662	0.89[AMR][1000 genomes]
rs11658178	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs11658389	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11658671	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11658722	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11658742	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11658791	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11869271	0.89[AMR][1000 genomes]
rs11870338	0.83[CHB][hapmap]
rs11871167	0.84[AFR][1000 genomes]
rs16942330	0.83[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs16962375	0.83[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes]
rs16962469	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16962470	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2291035	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs3785544	0.89[AMR][1000 genomes]
rs3891644	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4985937	0.90[EUR][1000 genomes]
rs4985938	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4985939	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62055504	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62055511	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62056764	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62056765	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62056768	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62056770	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62056771	0.89[AMR][1000 genomes]
rs62056832	0.89[AMR][1000 genomes]
rs62058987	0.80[AMR][1000 genomes]
rs62058990	0.80[AMR][1000 genomes]
rs62058991	0.80[AMR][1000 genomes]
rs62058993	0.80[AMR][1000 genomes]
rs716959	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs8079468	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs8080233	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9905095	0.82[CHB][hapmap]
rs9914432	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs9972887	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20848200-20896600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20874600-20896600	Weak transcription	Spleen	Spleen
3	chr17:20881400-20896200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:20886800-20896400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr17:20887000-20896600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr17:20887200-20896000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20891000-20897400	Weak transcription	Gastric	stomach
8	chr17:20893000-20901600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:20893800-20896600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:20893800-20901200	Weak transcription	Right Atrium	heart
11	chr17:20894000-20896600	Weak transcription	HSMMtube	muscle
12	chr17:20894200-20896000	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:20894800-20899000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:20895000-20896400	Weak transcription	HepG2	liver
15	chr17:20895200-20896400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:20895400-20897000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:20895400-20897000	Enhancers	Fetal Heart	heart
18	chr17:20895400-20897000	Enhancers	Pancreas	Pancrea
19	chr17:20895400-20897600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:20895600-20896000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:20895600-20896000	Bivalent Enhancer	Placenta	Placenta
22	chr17:20895600-20896000	Enhancers	Stomach Smooth Muscle	stomach
23	chr17:20895600-20896600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr17:20895600-20897000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr17:20895600-20897000	Enhancers	HMEC	breast
26	chr17:20895600-20897200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:20895600-20897200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:20895800-20896000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:20895800-20896000	Enhancers	Brain Cingulate Gyrus	brain
30	chr17:20895800-20896000	Enhancers	Colon Smooth Muscle	Colon
31	chr17:20895800-20896000	Enhancers	Esophagus	oesophagus
32	chr17:20895800-20896000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr17:20895800-20896200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:20895800-20896200	Enhancers	Lung	lung
35	chr17:20895800-20896400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:20895800-20896600	Enhancers	Brain Hippocampus Middle	brain
37	chr17:20895800-20896800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:20895800-20896800	Enhancers	Right Ventricle	heart
39	chr17:20895800-20897000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:20895800-20897200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:20895800-20897200	Enhancers	Brain Anterior Caudate	brain
42	chr17:20895800-20898000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links