Variant report

Variant	rs149352694
Chromosome Location	chr8:10571298-10571299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr8:10570124-10571444	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr8:10570468-10571475	MCF10A-Er-Src	breast:	n/a	n/a
3	ZKSCAN1	chr8:10570088-10571606	Hela-S3	cervix:	n/a	n/a
4	MAX	chr8:10570218-10571723	Hela-S3	cervix:	n/a	chr8:10571371-10571381
5	STAT3	chr8:10570842-10571655	MCF10A-Er-Src	breast:	n/a	chr8:10571554-10571566
6	MYC	chr8:10570930-10571599	MCF10A-Er-Src	breast:	n/a	chr8:10571371-10571381
7	SMC3	chr8:10570825-10571657	Hela-S3	cervix:	n/a	n/a
8	FOS	chr8:10569987-10571453	MCF10A-Er-Src	breast:	n/a	chr8:10571288-10571299
9	FOS	chr8:10570845-10571607	MCF10A-Er-Src	breast:	n/a	chr8:10571288-10571299
10	TCF7L2	chr8:10570225-10571712	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr8:10570190-10571698	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:10570140-10571670	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:10570410-10571345	MCF10A-Er-Src	breast:	n/a	n/a
14	BRCA1	chr8:10570054-10571623	Hela-S3	cervix:	n/a	n/a
15	SMARCC1	chr8:10569960-10571737	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10568215..10570516-chr8:10570791..10574753,3	K562	blood:

Variant related genes	Relation type
RP1L1	TF binding region
ENSG00000183638	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	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
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10567400-10571800	Enhancers	HMEC	breast
2	chr8:10567800-10571600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10567800-10572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:10568800-10571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10568800-10571800	Enhancers	HUVEC	blood vessel
6	chr8:10568800-10572600	Weak transcription	Right Atrium	heart
7	chr8:10568800-10573400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:10569000-10571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:10569000-10571400	Weak transcription	Spleen	Spleen
10	chr8:10569000-10572000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:10569000-10573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:10569400-10571600	Weak transcription	Left Ventricle	heart
13	chr8:10569600-10573400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:10570200-10571400	Flanking Active TSS	Hela-S3	cervix
15	chr8:10570200-10572200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:10570200-10575000	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:10570400-10573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:10570600-10572000	Enhancers	Liver	Liver
19	chr8:10570600-10572200	Enhancers	NHEK	skin
20	chr8:10570800-10573200	Weak transcription	K562	blood
21	chr8:10570800-10575800	Enhancers	Lung	lung
22	chr8:10571200-10572600	Enhancers	Esophagus	oesophagus
23	chr8:10571200-10574200	Enhancers	Rectal Mucosa Donor 31	rectum

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