Variant report

Variant	rs4840462
Chromosome Location	chr8:9916759-9916760
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	chr8:9911713..9914298-chr8:9916652..9919160,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction
ENSG00000260093	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10107485	0.85[JPT][hapmap]
rs11249968	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11249969	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11249970	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1160369	0.86[CHB][hapmap]
rs11774411	0.82[CHB][hapmap]
rs11779614	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785434	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs12155541	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12542030	0.82[JPT][hapmap]
rs12545775	0.82[JPT][hapmap]
rs12545788	0.82[JPT][hapmap]
rs12545826	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12547884	0.82[CHB][hapmap]
rs12550614	0.83[ASN][1000 genomes]
rs12679328	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12680389	0.87[JPT][hapmap]
rs13249013	0.86[CHB][hapmap]
rs13250499	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.84[ASN][1000 genomes]
rs13261836	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs13272793	0.94[YRI][hapmap]
rs13279619	0.83[ASN][1000 genomes]
rs13279701	0.95[YRI][hapmap]
rs1484641	1.00[YRI][hapmap]
rs1521193	0.81[AMR][1000 genomes]
rs1564808	0.85[CHB][hapmap]
rs17155393	0.81[JPT][hapmap]
rs17690549	0.94[YRI][hapmap]
rs17746227	0.94[YRI][hapmap]
rs17747335	0.94[YRI][hapmap]
rs2293091	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2409632	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2898242	0.83[CHB][hapmap]
rs35349653	0.95[ASN][1000 genomes]
rs3735823	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4841279	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs625218	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs685218	0.85[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6981546	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6983566	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6985941	0.89[YRI][hapmap]
rs6992152	0.80[AMR][1000 genomes]
rs6997865	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008407	0.82[CHB][hapmap]
rs7012221	0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap]
rs7832431	0.87[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs9329215	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1018236	chr8:9915428-9940481	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9913000-9933400	Weak transcription	Gastric	stomach
2	chr8:9913200-9919200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:9913200-9919400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:9913200-9919400	Weak transcription	Lung	lung
5	chr8:9913200-9919400	Weak transcription	Spleen	Spleen
6	chr8:9913200-9921000	Weak transcription	Fetal Stomach	stomach
7	chr8:9913200-9922000	Weak transcription	Esophagus	oesophagus
8	chr8:9913200-9926600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:9913200-9927600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:9913200-9929200	Weak transcription	Aorta	Aorta
11	chr8:9913200-9933600	Weak transcription	Pancreas	Pancrea
12	chr8:9913200-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:9913400-9917000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:9913400-9918400	Weak transcription	Fetal Brain Female	brain
15	chr8:9913400-9921200	Weak transcription	Adipose Nuclei	Adipose
16	chr8:9913400-9928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:9913400-9930600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:9913400-9935800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:9913600-9920400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:9913600-9938600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:9913800-9917000	Weak transcription	Fetal Brain Male	brain
22	chr8:9913800-9922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:9914000-9929600	Weak transcription	Primary B cells from cord blood	blood
24	chr8:9914800-9947200	Weak transcription	Left Ventricle	heart
25	chr8:9915000-9917400	Weak transcription	Liver	Liver
26	chr8:9915200-9919600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:9915400-9919600	Weak transcription	Primary T cells from cord blood	blood
28	chr8:9915400-9922400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:9915400-9922400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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