Variant report

Variant	rs17115495
Chromosome Location	chr1:57746271-57746272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1105502	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11206982	1.00[AMR][1000 genomes]
rs11206984	1.00[AMR][1000 genomes]
rs11206999	1.00[AMR][1000 genomes]
rs12061303	1.00[AMR][1000 genomes]
rs17115563	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1991092	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1995528	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61439451	1.00[AMR][1000 genomes]
rs6658540	1.00[AMR][1000 genomes]
rs750934	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539971	1.00[AMR][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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57735200-57747200	Weak transcription	Esophagus	oesophagus
2	chr1:57737400-57746800	Weak transcription	Fetal Brain Female	brain
3	chr1:57741800-57749400	Enhancers	Fetal Intestine Small	intestine
4	chr1:57742000-57749200	Enhancers	Liver	Liver
5	chr1:57742200-57755400	Weak transcription	Fetal Brain Male	brain
6	chr1:57744400-57749600	Enhancers	Fetal Intestine Large	intestine
7	chr1:57744600-57751200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57745000-57747400	Enhancers	HMEC	breast
9	chr1:57745200-57746800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:57745200-57747000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:57745200-57747000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:57745400-57747600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:57745400-57748200	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:57745600-57746400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:57745600-57746800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:57745600-57747400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:57745600-57748200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:57745800-57746400	Enhancers	Hela-S3	cervix
19	chr1:57745800-57746400	Enhancers	HepG2	liver
20	chr1:57745800-57747000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:57745800-57747600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:57746000-57747600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:57746200-57747000	Enhancers	NHEK	skin

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