Variant report

Variant	rs2687360
Chromosome Location	chr8:104366807-104366808
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
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2575690	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2575692	0.81[AMR][1000 genomes]
rs2575695	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2575700	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687350	0.81[AMR][1000 genomes]
rs2687358	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2917549	0.81[AMR][1000 genomes]
rs2948452	0.85[AMR][1000 genomes]
rs3098228	0.81[GIH][hapmap]
rs3098230	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs3098232	0.81[GIH][hapmap]
rs3098233	0.84[MEX][hapmap]
rs3098254	0.81[GIH][hapmap]
rs3098259	0.84[MEX][hapmap]
rs3133799	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3133801	0.85[AMR][1000 genomes]
rs3133803	0.81[CEU][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes]
rs3133810	0.81[GIH][hapmap]
rs3133813	0.84[MEX][hapmap]
rs3133838	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3133839	0.99[ASN][1000 genomes]
rs3134292	0.84[MEX][hapmap]
rs719841	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs719842	0.91[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs827576	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs827593	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs827596	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs827598	0.90[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2687360	CTHRC1	cis	brain	seeQTL
rs2687360	SLC25A32	cis	cerebellum	SCAN

Chromatin state (count:14 , 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	chr8:104365400-104367000	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:104365600-104369400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:104366200-104367200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:104366800-104369200	Weak transcription	Thymus	Thymus
13	chr8:104366800-104372000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:104366800-104372000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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