Variant report

Variant	rs6948576
Chromosome Location	chr7:12912234-12912235
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	chr7:12911820..12914851-chr7:12918750..12922159,3	K562	blood:
2	chr7:12906060..12908256-chr7:12910264..12912774,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10229134	0.90[ASN][1000 genomes]
rs10238211	0.81[ASN][1000 genomes]
rs10240689	0.82[EUR][1000 genomes]
rs10243288	0.81[ASN][1000 genomes]
rs10243324	0.86[ASN][1000 genomes]
rs10246359	0.83[ASN][1000 genomes]
rs10256191	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10269634	0.82[ASN][1000 genomes]
rs10278442	0.83[ASN][1000 genomes]
rs12669053	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1476815	0.90[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619332	0.81[ASN][1000 genomes]
rs1978246	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1990346	0.90[ASN][1000 genomes]
rs2109290	0.84[ASN][1000 genomes]
rs2191265	0.85[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2191266	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs2191267	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2215333	0.83[ASN][1000 genomes]
rs2215337	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2357049	0.90[ASN][1000 genomes]
rs2357052	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2357053	0.86[CHB][hapmap]
rs28433921	0.81[ASN][1000 genomes]
rs28610292	0.85[ASN][1000 genomes]
rs2884084	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35490471	0.83[ASN][1000 genomes]
rs4260793	0.99[ASN][1000 genomes]
rs4288267	0.90[ASN][1000 genomes]
rs4288268	0.82[EUR][1000 genomes]
rs4480006	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4719339	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4721148	0.95[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4721153	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs56082010	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62448164	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460985	0.93[ASN][1000 genomes]
rs6944255	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6947361	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6948718	0.84[ASN][1000 genomes]
rs6949476	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6950280	0.86[ASN][1000 genomes]
rs6950340	0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs6953097	0.83[ASN][1000 genomes]
rs6959850	0.82[EUR][1000 genomes]
rs6961897	0.86[ASN][1000 genomes]
rs6962633	0.84[ASN][1000 genomes]
rs6965712	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6969461	0.84[ASN][1000 genomes]
rs6976082	0.83[ASN][1000 genomes]
rs6978013	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs758675	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs758676	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7787464	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7787728	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7790527	0.86[ASN][1000 genomes]
rs7793560	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7793747	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7795573	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7800218	0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7800522	0.94[ASN][1000 genomes]
rs7800580	0.90[ASN][1000 genomes]
rs7803338	0.82[ASN][1000 genomes]
rs7808814	0.82[EUR][1000 genomes]
rs7809081	0.90[ASN][1000 genomes]
rs7810511	0.92[ASN][1000 genomes]
rs7811356	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv464382	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv606237	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv824013	chr7:12909669-12915411	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12912000-12912400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr7:12912200-12912400	Enhancers	HSMMtube	muscle

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