Variant report

Variant	rs3133598
Chromosome Location	chr8:95578349-95578350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95576615..95579797-chr8:95730119..95732056,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10109309	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1866844	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs2304765	0.89[YRI][hapmap]
rs2450579	0.85[GIH][hapmap];0.86[MEX][hapmap]
rs2470736	0.95[GIH][hapmap];0.86[MEX][hapmap]
rs2470737	0.95[GIH][hapmap]
rs2470743	0.95[GIH][hapmap]
rs3096602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096605	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs3098711	0.88[YRI][hapmap]
rs3098713	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3098717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098720	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3098721	0.85[YRI][hapmap]
rs3098723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3098724	0.86[ASW][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3098726	0.93[EUR][1000 genomes]
rs3099408	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099409	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3099411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3099415	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3099416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099417	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3099418	0.82[YRI][hapmap]
rs3099419	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3099421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099424	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102843	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3102844	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102849	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3102863	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3102864	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3102866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3102868	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3102869	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3102870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102871	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3102872	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3102873	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3102876	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133606	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133607	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133612	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133613	0.83[EUR][1000 genomes]
rs3133614	0.95[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap]
rs3133616	0.83[EUR][1000 genomes]
rs3133617	0.85[EUR][1000 genomes]
rs3133623	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs3133624	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs3133638	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133642	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133643	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs3133646	0.85[YRI][hapmap]
rs3133647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133650	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3133652	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133653	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133659	0.82[YRI][hapmap]
rs3133661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34432191	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36040483	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55771794	0.80[AFR][1000 genomes]
rs882521	0.95[GIH][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription 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
6	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95567000-95578800	Weak transcription	Fetal Lung	lung
2	chr8:95567000-95579200	Weak transcription	Aorta	Aorta
3	chr8:95567000-95579200	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:95567000-95579600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:95567000-95580600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:95567000-95583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:95567000-95584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:95570000-95584400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:95570200-95579400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:95570200-95582400	Weak transcription	Brain Substantia Nigra	brain
11	chr8:95570400-95579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:95570400-95579200	Weak transcription	Ovary	ovary
13	chr8:95570400-95579600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:95570400-95582400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:95572200-95579600	Weak transcription	GM12878-XiMat	blood
16	chr8:95573800-95578400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:95574000-95579200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:95574000-95579200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:95574000-95580600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:95574000-95582600	Weak transcription	Adipose Nuclei	Adipose
21	chr8:95574000-95582800	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:95574200-95578800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:95574200-95579600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:95574200-95582400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:95574400-95579400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:95574400-95582600	Weak transcription	Primary T cells from cord blood	blood
27	chr8:95574600-95579200	Weak transcription	Thymus	Thymus
28	chr8:95574600-95579400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:95574600-95579600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:95575000-95584200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:95575600-95579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95575600-95579200	Weak transcription	Fetal Intestine Small	intestine
33	chr8:95575600-95579200	Weak transcription	Left Ventricle	heart
34	chr8:95576000-95579200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:95577800-95582800	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links