Variant report

Variant	rs2944830
Chromosome Location	chr7:71849677-71849678
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10251904	0.80[CHD][hapmap];0.89[JPT][hapmap]
rs10268535	0.80[CHD][hapmap];0.89[JPT][hapmap]
rs10486883	0.85[CEU][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap]
rs10950307	0.84[ASN][1000 genomes]
rs11771673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11982081	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12699130	0.92[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs13244320	0.89[CEU][hapmap]
rs13244813	0.88[CEU][hapmap]
rs1468163	0.92[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs17503400	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs17582005	0.92[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs1878490	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1914391	0.89[CEU][hapmap]
rs1914397	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs2944786	0.93[JPT][hapmap]
rs2944787	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2944788	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2944791	0.84[ASN][1000 genomes]
rs2944794	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2944796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2944798	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2944799	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2944814	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2944815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2944817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2944819	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2944820	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2944821	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2944822	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2944824	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2944825	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2944829	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2944840	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2968513	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2968531	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2968532	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968533	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968538	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs35537723	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4128154	0.89[JPT][hapmap]
rs4348366	0.83[JPT][hapmap]
rs4415209	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs4717636	0.89[CEU][hapmap]
rs4719223	0.83[CEU][hapmap]
rs6460708	0.89[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs6946889	0.89[JPT][hapmap]
rs6979389	0.83[JPT][hapmap]
rs7778103	0.89[JPT][hapmap]
rs7779206	0.92[CEU][hapmap]
rs7783256	0.92[CEU][hapmap]
rs7784524	0.89[JPT][hapmap]
rs7787380	0.89[JPT][hapmap]
rs7792669	0.92[CEU][hapmap]
rs7799175	0.92[CEU][hapmap]
rs9638655	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv464557	chr7:71744896-71935721	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607461	chr7:71744896-71935721	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1029656	chr7:71745055-71935721	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv428170	chr7:71783434-71917539	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1021570	chr7:71803570-71854572	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv538946	chr7:71803570-71854572	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2764059	chr7:71807474-71858167	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023385	chr7:71815307-71858167	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1019885	chr7:71816339-71858167	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2762678	chr7:71821329-71858711	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2944830	CLIP2	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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