Variant report

Variant	rs6745509
Chromosome Location	chr2:186798249-186798250
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	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1010838	0.86[JPT][hapmap]
rs1010839	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs10172282	0.89[EUR][1000 genomes]
rs10186970	0.89[EUR][1000 genomes]
rs10188205	0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs10190413	0.85[ASN][1000 genomes]
rs1019429	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs10195661	0.85[ASN][1000 genomes]
rs10196671	0.89[EUR][1000 genomes]
rs10200405	0.90[EUR][1000 genomes]
rs10206144	0.88[EUR][1000 genomes]
rs10210339	0.85[ASN][1000 genomes]
rs10490390	0.90[JPT][hapmap]
rs10490391	0.86[JPT][hapmap]
rs10490392	0.86[JPT][hapmap]
rs10803999	0.84[EUR][1000 genomes]
rs10804000	0.84[EUR][1000 genomes]
rs10931194	0.86[JPT][hapmap]
rs10931204	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931205	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931206	0.86[ASN][1000 genomes]
rs10931208	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931210	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931212	0.89[EUR][1000 genomes]
rs10931214	0.85[EUR][1000 genomes]
rs10931215	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11533795	0.90[EUR][1000 genomes]
rs11883784	0.91[JPT][hapmap]
rs11884071	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs11893024	0.80[CHD][hapmap]
rs11894788	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11895657	0.80[EUR][1000 genomes]
rs12468672	0.84[ASN][1000 genomes]
rs12469228	0.88[ASN][1000 genomes]
rs12614517	0.87[ASN][1000 genomes]
rs12615124	0.87[ASN][1000 genomes]
rs12619847	0.85[ASN][1000 genomes]
rs12693420	0.85[ASN][1000 genomes]
rs12693422	0.87[ASN][1000 genomes]
rs13009116	0.87[ASN][1000 genomes]
rs13389467	0.80[EUR][1000 genomes]
rs13393206	0.80[EUR][1000 genomes]
rs1386521	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1386526	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1487359	0.87[ASN][1000 genomes]
rs1544710	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs1580491	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1586441	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1601726	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16827102	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs16827202	0.86[ASN][1000 genomes]
rs16827305	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16827310	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16827344	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17228483	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs17229201	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs17814545	0.86[JPT][hapmap]
rs1872833	0.84[EUR][1000 genomes]
rs1906235	0.82[ASN][1000 genomes]
rs1986166	0.91[CHD][hapmap];0.81[JPT][hapmap]
rs2101414	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2193821	0.85[ASN][1000 genomes]
rs2220336	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2370479	0.81[ASN][1000 genomes]
rs2370508	0.87[ASN][1000 genomes]
rs2887761	0.86[JPT][hapmap]
rs2887762	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2887770	0.90[EUR][1000 genomes]
rs4290621	0.85[ASN][1000 genomes]
rs4343438	0.83[CHD][hapmap]
rs4349308	0.83[ASN][1000 genomes]
rs4547499	0.86[JPT][hapmap]
rs4600604	0.87[ASN][1000 genomes]
rs4627528	0.87[ASN][1000 genomes]
rs4667063	0.81[ASN][1000 genomes]
rs6434141	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs6705753	0.86[JPT][hapmap]
rs6722041	0.84[ASN][1000 genomes]
rs6724942	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6737654	0.85[ASN][1000 genomes]
rs6738324	0.89[EUR][1000 genomes]
rs72905933	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72905952	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72905954	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72907806	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72907839	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72907849	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72907860	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7355630	0.87[ASN][1000 genomes]
rs7355674	0.87[ASN][1000 genomes]
rs7421273	0.86[ASN][1000 genomes]
rs7424780	0.86[JPT][hapmap]
rs751383	0.89[EUR][1000 genomes]
rs751384	0.90[EUR][1000 genomes]
rs7566901	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs7570524	0.84[CHD][hapmap]
rs7572909	0.86[ASN][1000 genomes]
rs7573074	0.86[ASN][1000 genomes]
rs7575226	0.85[JPT][hapmap]
rs7577036	0.86[ASN][1000 genomes]
rs7584776	0.86[JPT][hapmap]
rs7587008	0.86[ASN][1000 genomes]
rs7592890	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs7601285	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9646802	0.91[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv1797599	chr2:186618494-186882821	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv998624	chr2:186735464-186845432	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv584023	chr2:186750735-186851224	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv875546	chr2:186756348-186892254	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv459987	chr2:186790478-186860130	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv584024	chr2:186790478-186860130	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv875547	chr2:186798249-187014815	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv875548	chr2:186798249-187164657	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6745509	AC007966.1	cis	Artery Aorta	GTEx
rs6745509	AC007966.1	cis	Thyroid	GTEx
rs6745509	AC007966.1	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186784200-186809400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:186791600-186810000	Weak transcription	Pancreas	Pancrea

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