Variant report

Variant	rs12190092
Chromosome Location	chr6:73348639-73348640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73330010..73334133-chr6:73345642..73350133,4	K562	blood:
2	chr6:73345711..73347963-chr6:73348189..73350239,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185760	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10485212	0.86[ASN][1000 genomes]
rs10943043	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10943045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943050	0.84[EUR][1000 genomes]
rs11758568	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12189933	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12190091	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12191039	0.84[EUR][1000 genomes]
rs12191848	0.82[EUR][1000 genomes]
rs12193274	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194741	0.84[EUR][1000 genomes]
rs12195259	0.84[EUR][1000 genomes]
rs12196826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199549	0.84[EUR][1000 genomes]
rs12201380	0.84[EUR][1000 genomes]
rs12203288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204139	0.84[EUR][1000 genomes]
rs12205254	0.80[EUR][1000 genomes]
rs12210850	0.84[EUR][1000 genomes]
rs12212419	0.82[EUR][1000 genomes]
rs12212562	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12212818	0.84[EUR][1000 genomes]
rs12214096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214894	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12374631	0.84[EUR][1000 genomes]
rs17692552	0.86[ASN][1000 genomes]
rs17692715	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17749123	0.86[ASN][1000 genomes]
rs1928153	0.83[EUR][1000 genomes]
rs34821312	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs41265505	0.86[ASN][1000 genomes]
rs56086224	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62411986	0.84[EUR][1000 genomes]
rs6453591	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6453592	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6453593	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6453594	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7748594	0.84[EUR][1000 genomes]
rs7768673	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs953742	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73333800-73350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:73334400-73358800	Weak transcription	HSMM	muscle
3	chr6:73334600-73356200	Weak transcription	HMEC	breast
4	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:73337400-73356200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:73338600-73358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:73343400-73351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:73346800-73358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:73347400-73351000	Weak transcription	GM12878-XiMat	blood
11	chr6:73347800-73349400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:73348200-73349000	Weak transcription	Psoas Muscle	Psoas
13	chr6:73348200-73350200	Enhancers	Fetal Heart	heart
14	chr6:73348600-73349400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links