Variant report

Variant	rs12100234
Chromosome Location	chr13:76330880-76330881
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	POLR2A	chr13:76330732-76331397	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76330862..76332459-chr13:76334740..76336321,2	MCF-7	breast:

Variant related genes	Relation type
LMO7	TF binding region
ENSG00000136153	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10507834	1.00[CHB][hapmap]
rs11841544	1.00[JPT][hapmap]
rs12871921	1.00[CHB][hapmap]
rs1323570	1.00[CHB][hapmap]
rs17065018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17065132	1.00[CHB][hapmap]
rs17703316	1.00[YRI][hapmap]
rs4885350	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[LWK][hapmap]
rs7324230	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs7991894	1.00[JPT][hapmap]
rs920700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76322400-76334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:76323800-76336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:76324000-76332200	Weak transcription	HSMMtube	muscle
6	chr13:76324000-76335200	Weak transcription	NH-A	brain
7	chr13:76324200-76334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:76325200-76335200	Weak transcription	Ovary	ovary
9	chr13:76325800-76331200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:76325800-76333600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:76326000-76334600	Weak transcription	Fetal Lung	lung
12	chr13:76326800-76331600	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr13:76327000-76331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:76327200-76333800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:76327800-76333800	Weak transcription	Fetal Brain Male	brain
16	chr13:76328200-76331600	Strong transcription	HSMM	muscle
17	chr13:76328600-76333800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:76329200-76335600	Weak transcription	Primary B cells from cord blood	blood
19	chr13:76329600-76332000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr13:76329600-76332400	Enhancers	Primary T cells from cord blood	blood
21	chr13:76329800-76331600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr13:76329800-76331800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr13:76329800-76332000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr13:76329800-76332000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:76329800-76332400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:76330400-76331000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:76330400-76331200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr13:76330400-76331400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr13:76330400-76331600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:76330600-76331400	Genic enhancers	NHDF-Ad	bronchial
31	chr13:76330600-76331800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:76330600-76332000	Enhancers	Thymus	Thymus
33	chr13:76330600-76334400	Genic enhancers	Osteobl	bone
34	chr13:76330600-76334800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:76330800-76331600	Enhancers	HepG2	liver
36	chr13:76330800-76331600	Genic enhancers	NHLF	lung
37	chr13:76330800-76332400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr13:76330800-76332600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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