Variant report

Variant	rs1358498
Chromosome Location	chr7:121185936-121185937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121170290..121173101-chr7:121184218..121187943,3	K562	blood:
2	chr7:121040420..121043103-chr7:121184130..121186484,2	MCF-7	breast:
3	chr7:121034207..121038636-chr7:121184740..121188442,10	MCF-7	breast:
4	chr7:121169242..121171748-chr7:121184406..121186346,2	MCF-7	breast:
5	chr7:121034427..121039443-chr7:121180318..121188172,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213310	Chromatin interaction
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10233243	0.87[CHB][hapmap]
rs10480752	0.95[CHB][hapmap]
rs11982466	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12113263	0.88[ASN][1000 genomes]
rs12538176	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17132746	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17132749	0.90[ASN][1000 genomes]
rs17132759	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs17143490	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17143502	0.90[ASN][1000 genomes]
rs17143518	0.90[ASN][1000 genomes]
rs17143547	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs17143550	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1807810	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2049701	0.87[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2049702	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs2214706	0.88[ASN][1000 genomes]
rs2214707	0.88[ASN][1000 genomes]
rs4145963	0.95[CHB][hapmap]
rs5000108	0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5000110	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs5000111	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs5000112	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs5000113	0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5000114	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs5000115	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5000116	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs55718335	0.90[ASN][1000 genomes]
rs55724857	0.85[ASN][1000 genomes]
rs55818559	0.88[ASN][1000 genomes]
rs55972921	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56123566	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56377404	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56911184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57704564	0.88[ASN][1000 genomes]
rs58109668	0.90[ASN][1000 genomes]
rs60537016	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60858294	0.87[ASN][1000 genomes]
rs62472521	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62472545	0.90[ASN][1000 genomes]
rs6466797	0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs68030420	0.88[ASN][1000 genomes]
rs6942542	0.88[ASN][1000 genomes]
rs6944967	0.90[ASN][1000 genomes]
rs6946556	0.90[ASN][1000 genomes]
rs6947850	0.87[ASN][1000 genomes]
rs6962871	0.90[ASN][1000 genomes]
rs6963361	0.90[ASN][1000 genomes]
rs6967572	0.88[ASN][1000 genomes]
rs6967738	0.88[ASN][1000 genomes]
rs736411	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs736412	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs740100	0.88[ASN][1000 genomes]
rs757710	0.88[ASN][1000 genomes]
rs757711	0.90[ASN][1000 genomes]
rs757712	0.90[ASN][1000 genomes]
rs7777295	0.87[CHB][hapmap]
rs7777787	0.87[CHB][hapmap]
rs7778645	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7781058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7791746	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs7798219	0.88[ASN][1000 genomes]
rs7798404	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7809871	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7810840	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121183400-121188200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:121183600-121186200	Enhancers	Hela-S3	cervix
3	chr7:121183600-121187600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:121183600-121187600	Enhancers	HUVEC	blood vessel
5	chr7:121183800-121186600	Enhancers	HMEC	breast
6	chr7:121183800-121187600	Enhancers	NHDF-Ad	bronchial
7	chr7:121183800-121187600	Enhancers	Osteobl	bone
8	chr7:121184000-121187600	Enhancers	NHEK	skin
9	chr7:121184400-121187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:121184600-121186600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:121184800-121186000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:121184800-121186000	Weak transcription	NH-A	brain
13	chr7:121185200-121186800	Weak transcription	HSMM	muscle
14	chr7:121185400-121186200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:121185400-121186800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:121185600-121186200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:121185600-121187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:121185800-121186200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:121185800-121186600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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