Variant report

Variant	rs7814419
Chromosome Location	chr8:104366767-104366768
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104365094..104368478-chr8:104368534..104371541,4	MCF-7	breast:
2	chr8:104310756..104313273-chr8:104365945..104369337,3	MCF-7	breast:
3	chr8:104365548..104368445-chr8:104370555..104373478,2	K562	blood:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10093100	0.91[ASN][1000 genomes]
rs10093198	0.91[ASN][1000 genomes]
rs10100283	0.91[ASN][1000 genomes]
rs10955315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1403294	0.81[JPT][hapmap]
rs16870374	1.00[ASN][1000 genomes]
rs2272098	1.00[ASN][1000 genomes]
rs2272099	1.00[ASN][1000 genomes]
rs2272100	1.00[ASN][1000 genomes]
rs2272101	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35069403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3736052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4997479	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs59880568	1.00[ASN][1000 genomes]
rs60266328	0.97[ASN][1000 genomes]
rs60607235	1.00[ASN][1000 genomes]
rs6995597	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6997144	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7813068	0.88[ASN][1000 genomes]
rs7813603	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7817431	1.00[ASN][1000 genomes]
rs7818129	0.91[ASN][1000 genomes]
rs7834718	1.00[YRI][hapmap]

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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104357800-104383400	Weak transcription	Aorta	Aorta
2	chr8:104363000-104369200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:104363000-104371800	Weak transcription	HSMMtube	muscle
4	chr8:104363200-104372200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104363600-104369000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:104363800-104367000	Enhancers	Fetal Thymus	thymus
7	chr8:104364000-104369200	Weak transcription	Fetal Stomach	stomach
8	chr8:104364200-104368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:104365400-104366800	Enhancers	Primary T cells from cord blood	blood
10	chr8:104365400-104366800	Enhancers	Dnd41	blood
11	chr8:104365400-104367000	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:104365600-104366800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:104365600-104366800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:104365600-104366800	Enhancers	Thymus	Thymus
15	chr8:104365600-104369400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:104365800-104366800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:104366200-104366800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:104366200-104367200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:104366600-104366800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:104366600-104366800	Enhancers	Fetal Intestine Large	intestine

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