Variant report

Variant	rs7607532
Chromosome Location	chr2:186481533-186481534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1010838	0.84[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1010839	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1019429	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10196025	0.90[EUR][1000 genomes]
rs10199557	0.88[EUR][1000 genomes]
rs10206949	0.90[EUR][1000 genomes]
rs10210704	0.88[EUR][1000 genomes]
rs10490390	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10490391	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs10490392	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs10803985	0.80[EUR][1000 genomes]
rs10803994	0.82[ASN][1000 genomes]
rs10931188	0.93[EUR][1000 genomes]
rs10931190	0.90[ASN][1000 genomes]
rs10931194	0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1119051	0.81[ASN][1000 genomes]
rs11695263	0.81[ASN][1000 genomes]
rs11883784	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs11884004	0.82[ASN][1000 genomes]
rs11884071	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs11886336	0.93[EUR][1000 genomes]
rs11893212	1.00[ASN][1000 genomes]
rs11894788	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs11903585	0.82[ASN][1000 genomes]
rs12053506	0.82[ASN][1000 genomes]
rs12105970	0.92[EUR][1000 genomes]
rs12475908	0.87[EUR][1000 genomes]
rs12615117	0.93[ASN][1000 genomes]
rs12618129	0.82[ASN][1000 genomes]
rs12620977	0.91[ASN][1000 genomes]
rs13393941	0.90[EUR][1000 genomes]
rs1544710	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1544711	0.82[ASN][1000 genomes]
rs1544712	0.82[ASN][1000 genomes]
rs1544713	0.82[ASN][1000 genomes]
rs16826958	0.91[EUR][1000 genomes]
rs16827054	0.89[ASN][1000 genomes]
rs16827102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16827202	0.83[ASN][1000 genomes]
rs17228146	0.82[ASN][1000 genomes]
rs17228441	0.82[ASN][1000 genomes]
rs17228483	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs17229201	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs17813736	0.82[ASN][1000 genomes]
rs17814545	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs1986166	0.87[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2111710	1.00[ASN][1000 genomes]
rs2111711	0.93[EUR][1000 genomes]
rs2112034	0.82[JPT][hapmap]
rs2193611	0.92[ASN][1000 genomes]
rs2193612	0.94[ASN][1000 genomes]
rs2193821	0.84[ASN][1000 genomes]
rs2216402	0.93[EUR][1000 genomes]
rs2370396	0.98[ASN][1000 genomes]
rs2370400	0.92[ASN][1000 genomes]
rs2370476	0.82[ASN][1000 genomes]
rs2887761	0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2887762	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3821022	0.89[ASN][1000 genomes]
rs4233785	0.90[EUR][1000 genomes]
rs4300794	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4306683	0.86[EUR][1000 genomes]
rs4319900	0.89[EUR][1000 genomes]
rs4334457	0.89[ASN][1000 genomes]
rs4377305	0.90[EUR][1000 genomes]
rs4547499	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4549042	0.90[EUR][1000 genomes]
rs4666688	0.93[EUR][1000 genomes]
rs4667044	0.88[EUR][1000 genomes]
rs4667045	0.92[EUR][1000 genomes]
rs4667047	0.93[EUR][1000 genomes]
rs55730501	0.82[ASN][1000 genomes]
rs55856163	0.82[ASN][1000 genomes]
rs58762332	0.99[ASN][1000 genomes]
rs59321838	0.90[ASN][1000 genomes]
rs6434134	0.93[EUR][1000 genomes]
rs6434141	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6705390	0.82[ASN][1000 genomes]
rs6705753	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6725553	0.87[EUR][1000 genomes]
rs6729201	0.93[EUR][1000 genomes]
rs6732973	0.82[ASN][1000 genomes]
rs6733690	0.81[ASN][1000 genomes]
rs6737269	0.91[EUR][1000 genomes]
rs6745292	0.92[EUR][1000 genomes]
rs6746722	0.81[ASN][1000 genomes]
rs6747256	0.84[EUR][1000 genomes]
rs6749577	0.95[EUR][1000 genomes]
rs6753011	0.93[EUR][1000 genomes]
rs6753731	0.93[ASN][1000 genomes]
rs6758929	0.89[ASN][1000 genomes]
rs6759616	0.82[ASN][1000 genomes]
rs67690898	0.82[ASN][1000 genomes]
rs72898038	0.91[ASN][1000 genomes]
rs73035511	0.89[ASN][1000 genomes]
rs73978688	0.94[ASN][1000 genomes]
rs73978689	0.94[ASN][1000 genomes]
rs7424780	0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7560513	0.90[EUR][1000 genomes]
rs7562137	0.81[ASN][1000 genomes]
rs7566166	0.82[ASN][1000 genomes]
rs7566901	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7570524	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs7570827	0.82[ASN][1000 genomes]
rs7574766	0.82[ASN][1000 genomes]
rs7575226	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7577958	0.90[EUR][1000 genomes]
rs7584637	0.81[ASN][1000 genomes]
rs7584776	0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7587203	0.82[ASN][1000 genomes]
rs7587685	0.82[ASN][1000 genomes]
rs7592890	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7593254	0.88[EUR][1000 genomes]
rs7599179	0.84[EUR][1000 genomes]
rs7601391	0.88[EUR][1000 genomes]
rs7605519	0.88[ASN][1000 genomes]
rs9646802	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004048	chr2:186303297-186541503	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875531	chr2:186303530-186489537	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875536	chr2:186309738-186504175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875540	chr2:186345148-186583961	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875541	chr2:186345148-186598526	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1006219	chr2:186352780-186524793	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv584017	chr2:186352959-186515328	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv584018	chr2:186352959-186598526	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv916442	chr2:186356363-186534152	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875543	chr2:186365918-186489537	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1000814	chr2:186391490-186520872	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1000561	chr2:186450293-186556017	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1004422	chr2:186463915-186556017	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv584020	chr2:186475590-186661567	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7607532	AC007966.1	cis	Thyroid	GTEx
rs7607532	AC007966.1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186473600-186483400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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