Variant report

Variant	rs2953514
Chromosome Location	chr8:87334290-87334291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:87333559-87334316	Hela-S3	cervix:	n/a	chr8:87333707-87333720

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:

Variant related genes	Relation type
SLC7A13	TF binding region
ENSG00000123124	Chromatin interaction
ENSG00000254231	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10089169	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10089317	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090898	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10092168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10093867	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097546	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098365	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10100368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10100698	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106855	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10107571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10109032	0.85[ASN][1000 genomes]
rs10109677	0.81[EUR][1000 genomes]
rs10113158	0.97[ASN][1000 genomes]
rs10504823	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956820	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956821	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10956822	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11774253	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781993	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783382	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11994508	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11997927	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12155979	0.82[EUR][1000 genomes]
rs12155981	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12156004	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12216783	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12335013	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12677915	0.84[YRI][hapmap]
rs13265266	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1595207	0.83[CEU][hapmap];0.83[YRI][hapmap]
rs17681534	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17681826	0.92[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs28384362	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28433311	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28445847	0.97[ASN][1000 genomes]
rs28504479	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28715255	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28783474	0.97[ASN][1000 genomes]
rs2917553	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917559	0.83[CEU][hapmap]
rs2953507	0.97[ASN][1000 genomes]
rs2953508	0.97[ASN][1000 genomes]
rs2953512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953518	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953519	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953520	0.80[EUR][1000 genomes]
rs2953521	0.84[EUR][1000 genomes]
rs2953523	0.85[CEU][hapmap];0.84[YRI][hapmap]
rs2953524	0.83[CEU][hapmap];0.83[YRI][hapmap]
rs2954348	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs2976170	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976173	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976174	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976175	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976176	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976192	0.90[ASN][1000 genomes]
rs2976194	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976195	0.93[ASN][1000 genomes]
rs2976196	0.93[ASN][1000 genomes]
rs2976199	0.93[ASN][1000 genomes]
rs2976202	0.97[ASN][1000 genomes]
rs4370511	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440616	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4633041	0.85[CEU][hapmap];0.84[YRI][hapmap]
rs55671538	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55871514	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471266	0.83[CEU][hapmap];0.83[YRI][hapmap]
rs6471284	0.97[ASN][1000 genomes]
rs6471295	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471317	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980476	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6993497	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6993612	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015772	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018083	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs73262925	0.97[ASN][1000 genomes]
rs73262927	0.97[ASN][1000 genomes]
rs73688817	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688823	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688824	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688827	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815489	0.97[ASN][1000 genomes]
rs7837581	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837618	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839096	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843272	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843399	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7846468	0.97[ASN][1000 genomes]
rs9656823	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656824	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1023114	chr8:87167184-87335197	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1016050	chr8:87167790-87335197	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1031874	chr8:87177368-87335197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1030401	chr8:87177368-87337260	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv2761445	chr8:87185470-87335197	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2953514	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs2953514	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87330800-87334800	Enhancers	Fetal Lung	lung
2	chr8:87331200-87334400	Weak transcription	Esophagus	oesophagus
3	chr8:87332200-87334400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr8:87332200-87334800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:87332200-87334800	Enhancers	Placenta	Placenta
6	chr8:87332200-87334800	Enhancers	NHEK	skin
7	chr8:87332400-87334400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:87332400-87334600	Weak transcription	Left Ventricle	heart
9	chr8:87332800-87334600	Enhancers	HepG2	liver
10	chr8:87332800-87334800	Enhancers	Liver	Liver
11	chr8:87333200-87334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:87333400-87334600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:87333400-87334600	Enhancers	HMEC	breast
14	chr8:87333400-87337200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:87333600-87334600	Enhancers	Fetal Stomach	stomach
16	chr8:87333800-87334400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr8:87333800-87334400	Enhancers	Hela-S3	cervix
18	chr8:87334200-87334400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:87334200-87334600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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