Variant report

Variant	rs6981847
Chromosome Location	chr8:10406533-10406534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10405123..10407146-chr8:10694080..10697115,3	MCF-7	breast:
2	chr8:10405164..10407665-chr8:10409193..10412013,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10108562	1.00[ASN][1000 genomes]
rs11774008	1.00[ASN][1000 genomes]
rs11775794	1.00[ASN][1000 genomes]
rs11776423	1.00[ASN][1000 genomes]
rs11776454	1.00[ASN][1000 genomes]
rs11777184	1.00[ASN][1000 genomes]
rs11778788	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11778815	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779652	1.00[ASN][1000 genomes]
rs11780167	1.00[ASN][1000 genomes]
rs11780868	1.00[ASN][1000 genomes]
rs11781718	1.00[ASN][1000 genomes]
rs11783848	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11785876	1.00[ASN][1000 genomes]
rs11786688	1.00[ASN][1000 genomes]
rs11787384	1.00[ASN][1000 genomes]
rs11787493	1.00[ASN][1000 genomes]
rs13249905	1.00[ASN][1000 genomes]
rs13259038	1.00[CHB][hapmap]
rs13269403	1.00[CHB][hapmap]
rs17151969	1.00[ASN][1000 genomes]
rs28361533	1.00[ASN][1000 genomes]
rs28577240	1.00[ASN][1000 genomes]
rs34994999	1.00[ASN][1000 genomes]
rs4320513	1.00[ASN][1000 genomes]
rs4591993	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840494	1.00[ASN][1000 genomes]
rs4840495	1.00[ASN][1000 genomes]
rs4840496	1.00[ASN][1000 genomes]
rs4841339	0.88[GIH][hapmap]
rs4841367	1.00[ASN][1000 genomes]
rs4841379	1.00[ASN][1000 genomes]
rs4841390	1.00[ASN][1000 genomes]
rs4841394	1.00[ASN][1000 genomes]
rs4841395	1.00[ASN][1000 genomes]
rs4841397	1.00[ASN][1000 genomes]
rs4841400	1.00[ASN][1000 genomes]
rs4841406	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56096665	1.00[ASN][1000 genomes]
rs58842562	1.00[ASN][1000 genomes]
rs60930396	1.00[ASN][1000 genomes]
rs61743179	1.00[ASN][1000 genomes]
rs6601479	1.00[GIH][hapmap]
rs6601486	1.00[ASN][1000 genomes]
rs6987165	1.00[GIH][hapmap]
rs7006052	1.00[ASN][1000 genomes]
rs73662849	1.00[ASN][1000 genomes]
rs73662851	1.00[ASN][1000 genomes]
rs73662852	1.00[ASN][1000 genomes]
rs73662853	1.00[ASN][1000 genomes]
rs73662854	1.00[ASN][1000 genomes]
rs73662855	1.00[ASN][1000 genomes]
rs73662857	1.00[ASN][1000 genomes]
rs73662858	1.00[ASN][1000 genomes]
rs7815324	1.00[GIH][hapmap]
rs7842777	1.00[GIH][hapmap]
rs7846306	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6981847	BLK	cis	parietal	SCAN
rs6981847	PRSS55	cis	cerebellum	SCAN
rs6981847	MCPH1	cis	cerebellum	SCAN
rs6981847	C8orf79	cis	parietal	SCAN
rs6981847	PRSS55	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10403200-10407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:10403400-10406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:10403400-10407200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr8:10403400-10412000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:10403800-10408200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:10403800-10408200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:10404800-10422000	Weak transcription	Right Atrium	heart
8	chr8:10405600-10407400	Enhancers	Fetal Muscle Leg	muscle
9	chr8:10406200-10407200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10406200-10410600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:10406400-10410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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