Variant report

Variant	rs8067783
Chromosome Location	chr17:59444731-59444732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
2	chr17:59442576..59445389-chr6:40171925..40174625,2	MCF-7	breast:
3	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction

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

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

rs_ID	r²[population]
rs57039216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58987875	1.00[AMR][1000 genomes]
rs59586391	1.00[AMR][1000 genomes]
rs7209147	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330773	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330774	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332706	0.85[AMR][1000 genomes]
rs8068680	0.85[AMR][1000 genomes]
rs8072176	1.00[AMR][1000 genomes]
rs8076784	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	nsv1065939	chr17:59283350-59517730	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	331 gene(s)	inside rSNPs	diseases
2	nsv833505	chr17:59323466-59518007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	326 gene(s)	inside rSNPs	diseases
3	nsv833506	chr17:59362377-59562984	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59416200-59444800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:59427800-59450000	Weak transcription	Ovary	ovary
3	chr17:59429400-59446000	Weak transcription	Fetal Intestine Small	intestine
4	chr17:59431200-59446200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:59431200-59446200	Weak transcription	Lung	lung
6	chr17:59431600-59445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
8	chr17:59438200-59445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:59438200-59470800	Weak transcription	Esophagus	oesophagus
10	chr17:59439200-59454400	Weak transcription	Hela-S3	cervix
11	chr17:59439400-59446400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:59440200-59448200	Weak transcription	Fetal Brain Female	brain
13	chr17:59440200-59462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:59440800-59452000	Weak transcription	Fetal Kidney	kidney
15	chr17:59441600-59445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:59441600-59445600	Weak transcription	Pancreas	Pancrea
17	chr17:59441600-59446000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:59441600-59462200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:59442800-59454000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr17:59443000-59446800	Enhancers	Fetal Heart	heart
21	chr17:59443200-59445000	Flanking Active TSS	HepG2	liver
22	chr17:59443600-59445600	Enhancers	Adipose Nuclei	Adipose
23	chr17:59443800-59444800	Enhancers	Gastric	stomach
24	chr17:59443800-59445000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:59443800-59445000	Enhancers	Fetal Lung	lung
26	chr17:59443800-59445400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:59444000-59445000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:59444000-59445000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:59444000-59445000	Enhancers	Fetal Muscle Leg	muscle
30	chr17:59444000-59446800	Weak transcription	Spleen	Spleen
31	chr17:59444000-59447200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:59444000-59457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:59444200-59444800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:59444200-59444800	Strong transcription	Primary T cells from cord blood	blood
35	chr17:59444200-59444800	Enhancers	Duodenum Mucosa	Duodenum
36	chr17:59444200-59444800	Enhancers	NHLF	lung
37	chr17:59444200-59446000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:59444200-59460400	Weak transcription	Left Ventricle	heart
39	chr17:59444400-59445400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:59444400-59445600	Weak transcription	Fetal Stomach	stomach
41	chr17:59444400-59450200	Weak transcription	Liver	Liver
42	chr17:59444400-59467000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr17:59444600-59446200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr17:59444600-59456600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:59444600-59458400	Weak transcription	Brain Anterior Caudate	brain
46	chr17:59444600-59459800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:59444600-59460600	Weak transcription	Right Ventricle	heart
48	chr17:59444600-59473400	Weak transcription	Right Atrium	heart

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