Variant report

Variant	rs1012803
Chromosome Location	chr7:26688808-26688809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26683462..26685053-chr7:26688572..26690080,2	K562	blood:
2	chr7:26686597..26689327-chr7:26690764..26692323,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1015857	0.92[ASN][1000 genomes]
rs10242687	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10248160	0.82[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10452789	0.89[EUR][1000 genomes]
rs10486470	0.92[ASN][1000 genomes]
rs1125542	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11972163	0.91[ASN][1000 genomes]
rs12668342	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12671270	0.98[ASN][1000 genomes]
rs17154152	0.92[ASN][1000 genomes]
rs17154189	0.99[ASN][1000 genomes]
rs2106904	0.92[ASN][1000 genomes]
rs2391305	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2391306	0.98[ASN][1000 genomes]
rs4722627	0.87[ASN][1000 genomes]
rs57000259	0.94[ASN][1000 genomes]
rs57999903	0.92[ASN][1000 genomes]
rs58317468	0.94[ASN][1000 genomes]
rs58394627	0.99[ASN][1000 genomes]
rs58630663	0.98[ASN][1000 genomes]
rs59304553	0.94[ASN][1000 genomes]
rs59446421	0.81[EUR][1000 genomes]
rs59472926	0.81[EUR][1000 genomes]
rs59641892	0.94[ASN][1000 genomes]
rs60481941	0.85[EUR][1000 genomes]
rs61639217	0.90[EUR][1000 genomes]
rs62447660	0.82[EUR][1000 genomes]
rs62447699	0.87[EUR][1000 genomes]
rs6461960	0.92[ASN][1000 genomes]
rs6943736	0.92[ASN][1000 genomes]
rs6944239	0.92[ASN][1000 genomes]
rs6944318	0.91[ASN][1000 genomes]
rs6960206	0.92[ASN][1000 genomes]
rs6968658	0.99[ASN][1000 genomes]
rs72595043	0.94[ASN][1000 genomes]
rs7782588	0.92[ASN][1000 genomes]
rs7785804	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7787608	0.90[ASN][1000 genomes]
rs7798139	0.92[ASN][1000 genomes]
rs7804935	0.90[CHB][hapmap]
rs7805328	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs7807676	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1012803	DFNA5	cis	parietal	SCAN
rs1012803	DPP4	trans	lymphoblastoid	seeQTL
rs1012803	HOXA9	cis	parietal	SCAN
rs1012803	JAZF1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26671200-26693200	Weak transcription	Spleen	Spleen
2	chr7:26678400-26693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:26678800-26715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:26679400-26710000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:26680400-26704400	Weak transcription	Primary B cells from cord blood	blood
6	chr7:26682400-26692200	Weak transcription	Pancreas	Pancrea
7	chr7:26685600-26704400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:26686200-26693000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:26686400-26701600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:26687000-26689400	Enhancers	Hela-S3	cervix
11	chr7:26687600-26689000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:26687600-26689000	Enhancers	NHEK	skin
13	chr7:26687600-26692400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:26688200-26689400	Weak transcription	Placenta	Placenta
15	chr7:26688400-26693000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:26688400-26693600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:26688800-26689200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:26688800-26691800	Weak transcription	Fetal Kidney	kidney
19	chr7:26688800-26693000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:26688800-26704400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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