Variant report

Variant	rs7296800
Chromosome Location	chr12:10327995-10327996
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	FOS	chr12:10327609-10328221	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:10327592-10328177	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:10327645-10328083	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF7L2	chr12:10327824-10328119	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABARAPL1-2	chr12:10327881-10328121	NONHSAT026868

Variant related genes	Relation type
TMEM52B	TF binding region
OLR1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1050283	0.81[CEU][hapmap];0.92[JPT][hapmap]
rs1050286	0.85[JPT][hapmap]
rs10505755	0.92[JPT][hapmap]
rs11053647	0.91[JPT][hapmap]
rs11053648	0.93[JPT][hapmap]
rs11053649	0.92[JPT][hapmap]
rs11053654	0.84[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs12311169	0.81[AMR][1000 genomes]
rs12822177	0.92[JPT][hapmap]
rs2537777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2537778	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2537779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2634164	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3736232	0.93[JPT][hapmap]
rs3736233	0.92[JPT][hapmap]
rs3736234	0.92[JPT][hapmap]
rs3736235	0.92[JPT][hapmap]
rs3816844	0.92[JPT][hapmap]
rs4764299	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6488265	0.95[CEU][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes]
rs7300650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7958778	0.95[CEU][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10321800-10331200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:10325200-10328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:10325400-10330600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:10325400-10330600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:10325400-10335000	Weak transcription	A549	lung
6	chr12:10326200-10334800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:10327200-10329000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:10327400-10328400	Enhancers	NHEK	skin
9	chr12:10327400-10328600	Enhancers	HMEC	breast
10	chr12:10327600-10328000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:10327600-10328200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:10327600-10328400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:10327600-10329000	Enhancers	Hela-S3	cervix
14	chr12:10327600-10329600	Enhancers	Fetal Intestine Large	intestine
15	chr12:10327600-10330200	Enhancers	Fetal Intestine Small	intestine
16	chr12:10327800-10328400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr12:10327800-10328600	Enhancers	Placenta	Placenta
18	chr12:10327800-10330200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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