Variant report

Variant	rs7839434
Chromosome Location	chr8:11325641-11325642
allele	C/G
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	CTCF	chr8:11322867-11325851	SK-N-SH	brain:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11324181-11324194 chr8:11324805-11324814 chr8:11325235-11325248 chr8:11325261-11325271 chr8:11325761-11325774
2	MXI1	chr8:11320819-11325738	SK-N-SH	brain:	n/a	chr8:11321457-11321466 chr8:11321457-11321466
3	SMC3	chr8:11323020-11326094	SK-N-SH	brain:	n/a	chr8:11325540-11325547 chr8:11325260-11325274
4	CTCF	chr8:11325560-11325710	NHLF	lung:	n/a	n/a
5	RAD21	chr8:11321163-11325705	SK-N-SH	brain:	n/a	chr8:11325260-11325270 chr8:11325262-11325271 chr8:11325259-11325272 chr8:11323362-11323375 chr8:11324217-11324230 chr8:11325258-11325270 chr8:11325256-11325275
6	CTCF	chr8:11325493-11325650	GM19239	blood:	n/a	n/a
7	CTCF	chr8:11325520-11325670	HEK293	kidney:	n/a	n/a
8	CTCF	chr8:11324950-11325645	GM19240	blood:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
9	CTCF	chr8:11325600-11325750	GM12864	blood:	n/a	n/a
10	RAD21	chr8:11324876-11325682	HCT-116	colon:	n/a	chr8:11325260-11325270 chr8:11325262-11325271 chr8:11325259-11325272 chr8:11325258-11325270 chr8:11325256-11325275
11	CTCF	chr8:11325560-11325710	HRE	kidney:	n/a	n/a
12	CTCF	chr8:11325485-11325653	GM12892	blood:	n/a	n/a
13	NRF1	chr8:11324766-11325676	SK-N-SH	brain:	n/a	chr8:11325120-11325129 chr8:11325109-11325123 chr8:11325117-11325131 chr8:11325120-11325131 chr8:11325120-11325134
14	CTCF	chr8:11324417-11325784	A549	lung:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11324805-11324814 chr8:11325235-11325248 chr8:11325261-11325271 chr8:11325761-11325774
15	MTA3	chr8:11323427-11325671	GM12878	blood:	n/a	n/a
16	CTCF	chr8:11325560-11325710	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11268366..11270477-chr8:11325534..11327747,2	MCF-7	breast:
2	chr8:11194174..11194960-chr8:11325192..11325823,2	K562	blood:
3	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
4	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:

Variant related genes	Relation type
FAM167A	TF binding region
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56138616	0.82[AMR][1000 genomes]
rs56150706	0.89[EUR][1000 genomes]
rs56235592	0.82[EUR][1000 genomes]
rs61649748	0.90[EUR][1000 genomes]
rs6981704	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73207496	0.82[AMR][1000 genomes]
rs73209241	0.80[EUR][1000 genomes]
rs73209243	0.80[EUR][1000 genomes]
rs73209249	0.82[EUR][1000 genomes]
rs73209250	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73209254	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73209259	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73209260	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11325000-11326200	Weak transcription	Fetal Kidney	kidney
2	chr8:11325200-11325800	Enhancers	GM12878-XiMat	blood
3	chr8:11325200-11326000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11325200-11326000	Enhancers	Primary B cells from cord blood	blood
5	chr8:11325200-11326000	Bivalent Enhancer	Placenta	Placenta
6	chr8:11325200-11326000	Enhancers	Fetal Thymus	thymus
7	chr8:11325200-11331600	Weak transcription	Right Atrium	heart
8	chr8:11325200-11335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:11325400-11325800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:11325400-11325800	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:11325400-11325800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:11325400-11326000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11325400-11328600	Weak transcription	NHEK	skin
14	chr8:11325400-11330200	Weak transcription	Spleen	Spleen
15	chr8:11325400-11330400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:11325400-11330400	Weak transcription	Gastric	stomach
17	chr8:11325400-11331000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:11325600-11325800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:11325600-11325800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:11325600-11325800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
21	chr8:11325600-11325800	Enhancers	Fetal Brain Male	brain
22	chr8:11325600-11326200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:11325600-11326600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:11325600-11328600	Weak transcription	Pancreas	Pancrea
25	chr8:11325600-11330400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:11325600-11331000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:11325600-11331600	Weak transcription	Esophagus	oesophagus

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