Variant report

Variant	rs4873478
Chromosome Location	chr8:48523296-48523297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48518671..48521335-chr8:48522262..48524014,3	MCF-7	breast:
2	chr6:54711853..54714484-chr8:48522444..48524308,2	MCF-7	breast:
3	chr8:48521758..48524505-chr8:48647961..48649849,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10094128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109113	0.83[EUR][1000 genomes]
rs10441581	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957370	0.93[JPT][hapmap];0.91[YRI][hapmap]
rs10958058	0.83[CEU][hapmap]
rs1106607	0.83[CEU][hapmap]
rs11784823	0.82[CEU][hapmap]
rs12544329	0.82[CEU][hapmap]
rs12549996	0.83[CEU][hapmap]
rs12674784	0.88[JPT][hapmap]
rs13279327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1542721	0.87[JPT][hapmap]
rs16930163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16930230	0.87[JPT][hapmap]
rs2029239	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2130411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2130413	0.82[CEU][hapmap]
rs4436571	0.89[EUR][1000 genomes]
rs4486659	0.88[EUR][1000 genomes]
rs4594029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4608108	0.82[CEU][hapmap]
rs4873101	0.94[JPT][hapmap];0.91[YRI][hapmap]
rs4873368	0.83[CEU][hapmap]
rs4873386	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4873395	0.82[CEU][hapmap]
rs4873446	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4873463	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[EUR][1000 genomes]
rs4873546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6472450	0.86[YRI][hapmap]
rs6472452	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs6982620	0.82[CEU][hapmap]
rs6986054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7462209	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7827571	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7830859	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7833589	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7842068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs876915	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48503600-48535000	Weak transcription	Dnd41	blood
2	chr8:48506600-48525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:48506600-48530600	Weak transcription	HepG2	liver
4	chr8:48510400-48523400	Weak transcription	Hela-S3	cervix
5	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
6	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:48513000-48532000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48514000-48536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:48514800-48523600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:48515000-48524800	Weak transcription	Small Intestine	intestine
11	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:48515600-48532000	Weak transcription	Fetal Lung	lung
14	chr8:48515800-48540200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:48516000-48523400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48516000-48525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:48516200-48524800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:48516200-48528400	Weak transcription	Fetal Brain Male	brain
19	chr8:48516400-48525200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:48517600-48524600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:48517800-48540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
23	chr8:48522000-48523800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:48522200-48523800	Enhancers	A549	lung
25	chr8:48522200-48524000	Enhancers	NHLF	lung
26	chr8:48522400-48523800	Enhancers	Adipose Nuclei	Adipose
27	chr8:48522400-48523800	Enhancers	HUVEC	blood vessel
28	chr8:48522400-48523800	Enhancers	NHEK	skin
29	chr8:48522400-48526200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:48522600-48523400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:48522600-48523600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:48522600-48523600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:48522600-48523600	Enhancers	Fetal Heart	heart
34	chr8:48522600-48523800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:48522600-48523800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:48522600-48523800	Enhancers	Colon Smooth Muscle	Colon
37	chr8:48522600-48523800	Enhancers	Ovary	ovary
38	chr8:48522600-48523800	Enhancers	HSMMtube	muscle
39	chr8:48522600-48524000	Enhancers	Brain Hippocampus Middle	brain
40	chr8:48522600-48524000	Enhancers	NH-A	brain
41	chr8:48522600-48524600	Enhancers	Brain Anterior Caudate	brain
42	chr8:48522600-48525600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:48522600-48525800	Enhancers	Fetal Muscle Leg	muscle
44	chr8:48522600-48527200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:48522800-48523400	Enhancers	Fetal Muscle Trunk	muscle
46	chr8:48522800-48523400	Genic enhancers	Gastric	stomach
47	chr8:48522800-48523600	Enhancers	Brain Substantia Nigra	brain
48	chr8:48522800-48523600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr8:48522800-48523800	Strong transcription	Primary B cells from cord blood	blood
50	chr8:48522800-48523800	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links