Variant report

Variant	rs7511780
Chromosome Location	chr1:174048646-174048647
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	chr1:174043944..174046107-chr1:174046263..174049040,3	MCF-7	breast:
2	chr1:174040237..174043527-chr1:174046530..174049481,3	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10798301	0.87[CHB][hapmap]
rs10798302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10798309	0.83[YRI][hapmap]
rs10912719	0.86[ASN][1000 genomes]
rs10912722	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10912728	0.93[YRI][hapmap]
rs10912735	0.89[YRI][hapmap]
rs10912737	0.88[YRI][hapmap]
rs10912741	0.90[YRI][hapmap]
rs10912750	0.90[YRI][hapmap]
rs10912753	0.81[YRI][hapmap]
rs11802158	0.90[YRI][hapmap]
rs12065785	0.90[YRI][hapmap]
rs12066153	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs12076799	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12079062	0.83[CHB][hapmap]
rs12079214	0.90[YRI][hapmap]
rs12080977	0.89[YRI][hapmap]
rs12081445	0.89[YRI][hapmap]
rs12082461	0.89[YRI][hapmap]
rs12085311	0.90[YRI][hapmap]
rs12092774	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12096785	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12097809	0.81[ASN][1000 genomes]
rs12354141	0.89[YRI][hapmap]
rs12563301	0.87[CHB][hapmap]
rs12563395	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568409	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1322775	0.87[CHB][hapmap]
rs1322777	0.87[CHB][hapmap]
rs1322780	0.87[CHB][hapmap]
rs13375086	0.80[ASN][1000 genomes]
rs13376011	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16846683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16846717	0.89[YRI][hapmap]
rs16846718	0.89[YRI][hapmap]
rs16846816	0.89[YRI][hapmap]
rs1799876	0.91[CHB][hapmap]
rs1884994	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1951627	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2103640	0.90[YRI][hapmap]
rs3086	0.83[YRI][hapmap]
rs4592301	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4650945	0.83[CHB][hapmap]
rs4652169	0.87[CHB][hapmap]
rs4652283	0.85[CEU][hapmap]
rs4652298	0.85[CEU][hapmap]
rs4652328	0.85[CEU][hapmap]
rs56247945	0.80[ASN][1000 genomes]
rs5878	0.87[CHB][hapmap]
rs61547493	0.85[ASN][1000 genomes]
rs61826843	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826844	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827891	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61827894	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425273	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6661868	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6663875	0.87[CHB][hapmap]
rs6665484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673632	0.83[ASN][1000 genomes]
rs6676161	0.89[YRI][hapmap]
rs6677660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6678286	0.89[YRI][hapmap]
rs6686083	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6689285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6695327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696076	0.83[CHB][hapmap]
rs6696163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6699146	0.87[CHB][hapmap]
rs714624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs724888	0.90[YRI][hapmap]
rs724889	0.89[YRI][hapmap]
rs7413166	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7533430	0.83[CHB][hapmap]
rs7535987	0.89[YRI][hapmap]
rs7538312	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7547280	0.80[ASN][1000 genomes]
rs7547766	0.86[YRI][hapmap]
rs7553788	0.87[CHB][hapmap]
rs7554915	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs941989	0.87[CHB][hapmap]
rs9425430	0.87[CHB][hapmap]
rs9425431	0.85[CEU][hapmap]
rs9425433	0.85[CEU][hapmap]
rs9425766	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7511780	SERPINC1	cis	lung	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174047000-174049400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:174047200-174049800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:174047400-174050000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:174047600-174049000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:174047600-174049600	Weak transcription	K562	blood
6	chr1:174048000-174049000	Enhancers	NHEK	skin

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