Variant report

Variant	rs10480752
Chromosome Location	chr7:121182018-121182019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121034084..121038523-chr7:121179149..121184689,7	MCF-7	breast:
2	chr7:121172915..121174708-chr7:121180236..121182378,2	MCF-7	breast:
3	chr7:121034427..121039443-chr7:121180318..121188172,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction
ENSG00000213310	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10228676	0.81[ASN][1000 genomes]
rs10233243	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10237611	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10240973	0.81[ASN][1000 genomes]
rs10253256	0.81[ASN][1000 genomes]
rs10258260	0.81[ASN][1000 genomes]
rs10258506	0.83[ASN][1000 genomes]
rs10258640	0.81[ASN][1000 genomes]
rs10270561	0.81[ASN][1000 genomes]
rs10953936	0.80[ASN][1000 genomes]
rs11761290	0.81[ASN][1000 genomes]
rs11982466	0.83[CHB][hapmap]
rs1206560	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535189	0.96[ASN][1000 genomes]
rs12540408	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706358	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13229583	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1358498	0.95[CHB][hapmap]
rs1406194	0.81[ASN][1000 genomes]
rs1528352	0.92[ASN][1000 genomes]
rs17132759	0.87[CHB][hapmap]
rs17143547	0.87[CHB][hapmap]
rs17143550	0.87[CHB][hapmap]
rs1881374	0.86[ASN][1000 genomes]
rs1881375	0.83[ASN][1000 genomes]
rs1881376	0.83[ASN][1000 genomes]
rs1919086	0.80[ASN][1000 genomes]
rs1983493	0.80[ASN][1000 genomes]
rs1983494	0.81[ASN][1000 genomes]
rs1983495	0.83[ASN][1000 genomes]
rs1983496	0.81[ASN][1000 genomes]
rs2049701	0.83[CHB][hapmap]
rs2049702	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs2103298	0.81[ASN][1000 genomes]
rs2103299	0.81[ASN][1000 genomes]
rs2141364	0.81[ASN][1000 genomes]
rs2178188	0.81[ASN][1000 genomes]
rs28485397	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28578522	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28696257	0.81[ASN][1000 genomes]
rs3847091	0.81[ASN][1000 genomes]
rs3847092	0.81[ASN][1000 genomes]
rs3857836	0.81[ASN][1000 genomes]
rs4145963	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4727933	0.92[ASN][1000 genomes]
rs4731023	0.81[ASN][1000 genomes]
rs4731024	0.81[ASN][1000 genomes]
rs4731025	0.83[ASN][1000 genomes]
rs5000108	0.87[CHB][hapmap]
rs5000110	0.87[CHB][hapmap]
rs5000111	0.87[CHB][hapmap]
rs5000112	0.87[CHB][hapmap]
rs5000113	0.87[CHB][hapmap]
rs5000114	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5000115	0.87[CHB][hapmap]
rs5000116	0.86[CHB][hapmap]
rs6466797	0.87[CHB][hapmap]
rs6953922	0.86[ASN][1000 genomes]
rs6960065	0.81[ASN][1000 genomes]
rs736411	0.87[CHB][hapmap]
rs736412	0.87[CHB][hapmap]
rs7777295	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs7777787	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7787312	0.81[ASN][1000 genomes]
rs7791746	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7793736	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7795140	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867706	0.81[ASN][1000 genomes]
rs9649443	0.94[ASN][1000 genomes]
rs9719308	0.88[ASN][1000 genomes]
rs9719756	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1015438	chr7:121161554-121221761	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1811558	chr7:121161987-121186293	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv442067	chr7:121161987-121186293	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2761362	chr7:121172202-121252112	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121177800-121184200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:121178000-121183600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:121181400-121182800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:121181600-121182400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:121181600-121182400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:121182000-121183600	Weak transcription	Hela-S3	cervix
7	chr7:121182000-121183800	Weak transcription	HMEC	breast
8	chr7:121182000-121183800	Weak transcription	NHDF-Ad	bronchial

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