Variant report

Variant	rs12674784
Chromosome Location	chr8:48610369-48610370
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	chr8:48572127..48574593-chr8:48609264..48610909,2	MCF-7	breast:
2	chr8:48171946..48174429-chr8:48608651..48611565,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10094128	0.88[JPT][hapmap]
rs10441581	0.87[JPT][hapmap]
rs13279327	0.96[CEU][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs13280068	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1542721	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16930163	0.92[CEU][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16930230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2130411	0.88[JPT][hapmap]
rs4594029	0.87[JPT][hapmap]
rs4873463	0.88[JPT][hapmap]
rs4873478	0.88[JPT][hapmap]
rs4873546	0.87[JPT][hapmap]
rs6986054	0.87[JPT][hapmap]
rs7827571	0.87[JPT][hapmap]
rs7830859	0.86[EUR][1000 genomes]
rs7842068	0.87[JPT][hapmap]

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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
3	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
5	chr8:48590600-48625200	Weak transcription	HepG2	liver
6	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
7	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
9	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:48597000-48610400	Weak transcription	Ovary	ovary
12	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:48597200-48614200	Weak transcription	Hela-S3	cervix
14	chr8:48597200-48647200	Weak transcription	NHEK	skin
15	chr8:48597200-48647400	Weak transcription	HMEC	breast
16	chr8:48597400-48614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:48597800-48612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
19	chr8:48600000-48612600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:48600400-48612600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:48600400-48612600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:48600400-48612800	Weak transcription	Dnd41	blood
23	chr8:48600600-48615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:48600800-48612800	Weak transcription	Fetal Intestine Large	intestine
25	chr8:48600800-48614400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:48601800-48613000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:48602400-48612800	Weak transcription	Lung	lung
28	chr8:48602400-48616400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:48602600-48612800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:48602800-48610400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:48603000-48614200	Weak transcription	Primary T cells from cord blood	blood
33	chr8:48603400-48612600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:48603400-48614800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:48604000-48613000	Weak transcription	Fetal Brain Female	brain
36	chr8:48604200-48615000	Weak transcription	Colonic Mucosa	Colon
37	chr8:48604400-48612800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:48604400-48615000	Weak transcription	Pancreas	Pancrea
39	chr8:48604400-48619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
41	chr8:48604600-48614800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:48604600-48615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:48605000-48614400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:48605000-48614800	Weak transcription	Liver	Liver
45	chr8:48605000-48625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:48605200-48612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:48605600-48612800	Weak transcription	Gastric	stomach
48	chr8:48606200-48610800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:48606400-48610400	Weak transcription	Adipose Nuclei	Adipose
50	chr8:48606400-48610400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links