Variant report

Variant	rs2717353
Chromosome Location	chr7:19014202-19014203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19014156..19016996-chr7:19021800..19024663,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2248166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2526631	0.81[LWK][hapmap];0.81[YRI][hapmap]
rs2526635	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2526636	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2526641	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717342	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717348	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2717352	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2853558	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2965025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2965029	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58115597	1.00[AMR][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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032870	chr7:18982862-19021763	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538765	chr7:18982862-19021763	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18991400-19025000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18999400-19016400	Weak transcription	HSMM	muscle
3	chr7:19000800-19017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:19003800-19016400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:19005400-19016800	Weak transcription	Adipose Nuclei	Adipose
6	chr7:19007000-19014400	Weak transcription	NHDF-Ad	bronchial
7	chr7:19011600-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:19011600-19018800	Enhancers	HMEC	breast
9	chr7:19011600-19018800	Enhancers	NHEK	skin
10	chr7:19011800-19015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:19012000-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:19012200-19018600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:19013400-19016800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:19013600-19014800	Enhancers	NHLF	lung
15	chr7:19013800-19040800	Weak transcription	Aorta	Aorta
16	chr7:19014000-19014600	Enhancers	NH-A	brain
17	chr7:19014000-19014800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:19014000-19014800	Enhancers	A549	lung
19	chr7:19014000-19015400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:19014000-19017000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:19014000-19017200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:19014200-19014800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:19014200-19015000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:19014200-19015200	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links