Variant report

Variant	rs12519047
Chromosome Location	chr5:79498180-79498181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79496645..79499185-chr5:79500961..79504091,3	MCF-7	breast:
2	chr5:79486187..79489980-chr5:79497406..79500958,4	K562	blood:
3	chr5:79497550..79499270-chr5:79551891..79553568,2	K562	blood:
4	chr5:79484287..79486175-chr5:79497983..79500129,2	MCF-7	breast:
5	chr5:79498138..79500647-chr5:79519538..79521427,2	K562	blood:

Variant related genes	Relation type
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10036776	0.80[JPT][hapmap]
rs4703804	0.91[ASN][1000 genomes]
rs4703805	0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4704630	0.86[AFR][1000 genomes]
rs4704633	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704634	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap]
rs60316437	0.81[ASN][1000 genomes]
rs66738727	0.96[ASN][1000 genomes]
rs6879270	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79483800-79498200	Weak transcription	NHEK	skin
2	chr5:79489000-79500800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:79489200-79500800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:79489400-79498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:79489600-79498200	Weak transcription	Aorta	Aorta
6	chr5:79489600-79499600	Weak transcription	NH-A	brain
7	chr5:79489600-79500400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:79489800-79500000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:79489800-79500800	Weak transcription	HSMM	muscle
10	chr5:79489800-79502000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:79490200-79498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:79490200-79499600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:79490400-79498800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:79490800-79498200	Weak transcription	Primary B cells from cord blood	blood
15	chr5:79490800-79498200	Weak transcription	Spleen	Spleen
16	chr5:79490800-79499600	Weak transcription	Fetal Brain Male	brain
17	chr5:79490800-79500200	Weak transcription	Small Intestine	intestine
18	chr5:79490800-79500800	Weak transcription	HSMMtube	muscle
19	chr5:79490800-79513800	Weak transcription	Fetal Kidney	kidney
20	chr5:79491600-79500400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:79491800-79500800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:79491800-79501000	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr5:79492000-79499600	Strong transcription	Fetal Intestine Small	intestine
24	chr5:79492000-79500000	Strong transcription	Fetal Stomach	stomach
25	chr5:79492000-79500200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:79492000-79504200	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:79492200-79498400	Strong transcription	Liver	Liver
28	chr5:79492200-79498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:79492200-79499000	Strong transcription	Thymus	Thymus
30	chr5:79492200-79500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:79492200-79500400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:79492200-79501800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:79492200-79506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:79492400-79500400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:79493200-79499800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:79493400-79501000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:79493400-79501000	Strong transcription	Dnd41	blood
38	chr5:79494000-79499600	Strong transcription	Fetal Intestine Large	intestine
39	chr5:79494200-79499000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:79494200-79500800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr5:79494400-79498600	Weak transcription	Pancreas	Pancrea
42	chr5:79494400-79499000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:79494400-79499600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:79494600-79498800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:79494600-79498800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:79494600-79499000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:79494800-79498200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:79494800-79499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:79495000-79498600	Weak transcription	Lung	lung
50	chr5:79495000-79498800	Strong transcription	Fetal Thymus	thymus

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