Variant report

Variant	rs6993476
Chromosome Location	chr8:103104360-103104361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103104191..103106408-chr8:103110112..103111638,2	MCF-7	breast:
2	chr8:94657213..94658713-chr8:103102291..103104933,2	MCF-7	breast:
3	chr8:103103923..103106392-chr8:103121808..103124268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253781	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10086088	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10090764	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10110783	0.83[EUR][1000 genomes]
rs10955279	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11775854	0.88[EUR][1000 genomes]
rs11784583	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11784616	0.90[AFR][1000 genomes]
rs16869009	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28495349	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56162098	0.90[EUR][1000 genomes]
rs56224216	0.99[AFR][1000 genomes]
rs56844350	0.91[AFR][1000 genomes]
rs57718182	0.81[AFR][1000 genomes]
rs60659426	0.82[AFR][1000 genomes]
rs62523038	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62523039	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6992873	0.99[AFR][1000 genomes]
rs7012174	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7826367	0.81[AFR][1000 genomes]
rs7826675	0.84[AFR][1000 genomes]
rs7834622	0.95[ASN][1000 genomes]
rs7837308	0.99[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103097000-103107000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:103097000-103107400	Weak transcription	Ovary	ovary
3	chr8:103097400-103106600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:103097600-103105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:103099400-103108200	Weak transcription	Aorta	Aorta
6	chr8:103100600-103107400	Weak transcription	Psoas Muscle	Psoas
7	chr8:103102000-103104600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:103102600-103105200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:103103800-103106000	Enhancers	Fetal Heart	heart
10	chr8:103104200-103104400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr8:103104200-103105400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:103104200-103105400	Enhancers	Left Ventricle	heart

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