Variant report

Variant	rs2717352
Chromosome Location	chr7:19015077-19015078
allele	C/G
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	0.89[YRI][hapmap]
rs2526635	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2526636	0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2526641	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717342	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717348	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2717353	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	0.90[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:27 , 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	chr7:19011600-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:19011600-19018800	Enhancers	HMEC	breast
8	chr7:19011600-19018800	Enhancers	NHEK	skin
9	chr7:19011800-19015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:19012000-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:19012200-19018600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:19013400-19016800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:19013800-19040800	Weak transcription	Aorta	Aorta
14	chr7:19014000-19015400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19014000-19017000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:19014000-19017200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:19014200-19015200	Enhancers	Osteobl	bone
18	chr7:19014400-19015400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:19014400-19017200	Enhancers	NHDF-Ad	bronchial
20	chr7:19014600-19016400	Weak transcription	Fetal Stomach	stomach
21	chr7:19014600-19016400	Weak transcription	NH-A	brain
22	chr7:19014800-19016000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:19014800-19016200	Weak transcription	NHLF	lung
24	chr7:19014800-19016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:19014800-19017200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:19014800-19017200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:19015000-19016200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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