Variant report

Variant	rs763329
Chromosome Location	chr2:186509049-186509050
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	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10084180	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10166087	0.88[AMR][1000 genomes]
rs10168492	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10176556	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10179757	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10186680	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10192344	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10195783	1.00[EUR][1000 genomes]
rs10221663	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10221794	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10803986	1.00[EUR][1000 genomes]
rs10803987	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10803989	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931179	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931195	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10931199	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1116602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673741	1.00[EUR][1000 genomes]
rs11887570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900568	1.00[EUR][1000 genomes]
rs11903586	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12468005	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12620350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693410	0.91[EUR][1000 genomes]
rs12693412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002717	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020956	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13386652	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13398117	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13424121	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13425377	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13428759	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13428998	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1345933	1.00[EUR][1000 genomes]
rs1424525	1.00[EUR][1000 genomes]
rs1424526	1.00[EUR][1000 genomes]
rs1424527	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1424538	1.00[EUR][1000 genomes]
rs1477455	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477457	0.91[EUR][1000 genomes]
rs2193614	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193820	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2194508	0.91[EUR][1000 genomes]
rs2370391	1.00[EUR][1000 genomes]
rs2370469	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2370472	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265972	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4499391	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575687	1.00[EUR][1000 genomes]
rs4667053	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6434142	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6706525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758484	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6761586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566568	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7567961	1.00[EUR][1000 genomes]
rs7576532	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7576818	1.00[EUR][1000 genomes]
rs7592234	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7602278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606681	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607020	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs991327	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186507000-186510400	Enhancers	Fetal Intestine Small	intestine
2	chr2:186507000-186511000	Enhancers	Fetal Intestine Large	intestine
3	chr2:186507600-186511200	Enhancers	HepG2	liver
4	chr2:186508200-186510000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:186508400-186509200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:186508400-186509200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:186508400-186509200	Enhancers	Fetal Stomach	stomach
8	chr2:186509000-186509600	Weak transcription	Ovary	ovary
9	chr2:186509000-186510000	Enhancers	Cortex derived primary cultured neurospheres	brain

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