Variant report

Variant	rs1514175
Chromosome Location	chr1:74991644-74991645
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	chr1:74990321..74992157-chr1:75009741..75011754,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1040070	0.96[CEU][hapmap]
rs10493544	0.96[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs10789396	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890130	0.84[CEU][hapmap]
rs11210476	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11210478	0.84[CEU][hapmap]
rs12036473	0.92[CEU][hapmap]
rs12041852	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12041912	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12042908	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12142020	0.84[CEU][hapmap]
rs12566985	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1514173	0.84[CEU][hapmap]
rs1514174	0.96[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1514176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514177	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2344508	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3765680	0.84[CEU][hapmap]
rs3845344	0.88[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs3845345	0.84[CEU][hapmap]
rs3845347	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3894212	0.84[CEU][hapmap]
rs3895907	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4650277	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6604866	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6604867	0.96[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6604871	0.84[CEU][hapmap]
rs6604872	0.92[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6656785	0.88[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs6690871	0.96[CEU][hapmap]
rs6698622	0.84[CEU][hapmap]
rs6703637	0.84[CEU][hapmap]
rs7514705	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7520945	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7525548	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7526762	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7551507	0.92[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7553158	0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7553348	0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs953567	0.87[CEU][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	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv525557	chr1:74977705-74991644	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1003356	chr1:74983681-75024938	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv871900	chr1:74983835-75014195	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Body mass index	20935630	GWAS catalog
Body mass index	23669352	GWAS catalog

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74987200-74992400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:74988000-74991800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:74988400-74992000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:74989200-74992000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:74990200-75006600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:74990200-75017200	Weak transcription	Left Ventricle	heart
7	chr1:74990800-74991800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:74991200-74992200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:74991200-74992400	Weak transcription	Fetal Heart	heart
10	chr1:74991400-74991800	Enhancers	Small Intestine	intestine
11	chr1:74991600-74992000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:74991600-74992200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:74991600-74992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:74991600-74992400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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