Variant report

Variant	rs10279513
Chromosome Location	chr7:33243837-33243838
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33237473..33239165-chr7:33243368..33246191,2	K562	blood:
2	chr7:33237252..33238973-chr7:33242666..33244868,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019300	0.85[EUR][1000 genomes]
rs10228439	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10233296	0.81[EUR][1000 genomes]
rs10250045	0.81[EUR][1000 genomes]
rs10268074	0.81[EUR][1000 genomes]
rs10270013	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10278145	0.85[EUR][1000 genomes]
rs1030029	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10951382	0.82[EUR][1000 genomes]
rs10951383	0.81[EUR][1000 genomes]
rs12155105	0.81[EUR][1000 genomes]
rs12537278	0.81[EUR][1000 genomes]
rs12671191	0.81[EUR][1000 genomes]
rs1345307	0.81[EUR][1000 genomes]
rs1345308	0.85[EUR][1000 genomes]
rs1362371	0.85[EUR][1000 genomes]
rs1420147	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1420155	0.83[EUR][1000 genomes]
rs1420158	0.85[EUR][1000 genomes]
rs1592465	0.81[EUR][1000 genomes]
rs1592466	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1592467	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1894873	0.85[EUR][1000 genomes]
rs1969575	0.82[EUR][1000 genomes]
rs2392230	0.85[EUR][1000 genomes]
rs4720109	0.81[EUR][1000 genomes]
rs4720115	0.85[EUR][1000 genomes]
rs4723261	0.83[EUR][1000 genomes]
rs6462463	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6462464	0.85[EUR][1000 genomes]
rs6950434	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs721533	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764041	0.81[EUR][1000 genomes]
rs7778657	0.81[EUR][1000 genomes]
rs7778892	0.81[EUR][1000 genomes]
rs7780194	0.81[EUR][1000 genomes]
rs7789344	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7791710	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7803065	0.81[EUR][1000 genomes]
rs7809540	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs964707	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs986553	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv521481	chr7:33242474-33245128	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
2	chr7:33218200-33252200	Weak transcription	Left Ventricle	heart
3	chr7:33230800-33248000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:33236400-33244400	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:33236400-33247800	Weak transcription	Fetal Heart	heart
6	chr7:33236800-33249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:33240600-33249800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:33242600-33248000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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