Variant report

Variant	rs56112519
Chromosome Location	chr8:126589765-126589766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126496567..126498412-chr8:126588159..126590047,2	MCF-7	breast:
2	chr8:126556823..126559384-chr8:126588360..126590925,2	MCF-7	breast:
3	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
4	chr8:125984215..125987175-chr8:126588399..126591130,2	MCF-7	breast:
5	chr8:126576798..126579198-chr8:126587964..126590144,2	K562	blood:
6	chr8:126588899..126591050-chr8:126592630..126595542,2	MCF-7	breast:
7	chr8:126579931..126585815-chr8:126586527..126590543,9	MCF-7	breast:
8	chr8:126588355..126592631-chr8:126600736..126604091,3	MCF-7	breast:
9	chr8:126559888..126562095-chr8:126587973..126591145,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180938	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1006998	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956253	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17323382	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17330350	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17330462	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2085125	0.93[ASN][1000 genomes]
rs55752928	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56262214	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60426038	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521562	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470368	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6981191	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017624	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017801	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs748100	0.92[EUR][1000 genomes];0.87[ASN][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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 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	chr8:126581600-126590800	Weak transcription	Lung	lung
2	chr8:126582800-126590800	Weak transcription	Esophagus	oesophagus
3	chr8:126582800-126591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:126583000-126591200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:126583000-126591200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:126586200-126590000	Enhancers	Fetal Intestine Small	intestine
7	chr8:126586800-126590600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:126587000-126591000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:126587000-126594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:126587400-126590800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:126587600-126590000	Enhancers	Fetal Lung	lung
12	chr8:126587800-126594800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:126588200-126590000	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:126588200-126590000	Enhancers	Pancreas	Pancrea
15	chr8:126588200-126591600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:126588200-126592800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:126588400-126589800	Enhancers	Gastric	stomach
18	chr8:126588400-126590600	Weak transcription	NHEK	skin
19	chr8:126588600-126589800	Enhancers	A549	lung
20	chr8:126588600-126590000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:126588800-126589800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:126588800-126590600	Weak transcription	Spleen	Spleen
23	chr8:126588800-126592200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:126588800-126592200	Flanking Active TSS	Liver	Liver
25	chr8:126589000-126589800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:126589000-126589800	Weak transcription	Primary B cells from cord blood	blood
27	chr8:126589000-126589800	Enhancers	Stomach Mucosa	stomach
28	chr8:126589000-126589800	Enhancers	GM12878-XiMat	blood
29	chr8:126589000-126591400	Weak transcription	Small Intestine	intestine
30	chr8:126589200-126590400	Weak transcription	Placenta	Placenta
31	chr8:126589400-126590400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:126589400-126590600	Bivalent Enhancer	HepG2	liver
33	chr8:126589400-126590800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:126589400-126591600	Weak transcription	HMEC	breast
35	chr8:126589600-126589800	Enhancers	Fetal Heart	heart
36	chr8:126589600-126590000	Enhancers	Fetal Brain Male	brain
37	chr8:126589600-126590000	Enhancers	Fetal Kidney	kidney
38	chr8:126589600-126590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:126589600-126590600	Weak transcription	Colonic Mucosa	Colon
40	chr8:126589600-126590800	Enhancers	Hela-S3	cervix
41	chr8:126589600-126591200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:126589600-126594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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