Variant report

Variant	rs7012601
Chromosome Location	chr8:9971967-9971968
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9968733..9972257-chr8:9973876..9975676,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10107485	0.82[ASN][1000 genomes]
rs1160369	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1160370	0.83[ASN][1000 genomes]
rs11774411	0.95[ASN][1000 genomes]
rs11783851	0.96[ASN][1000 genomes]
rs11785434	0.89[ASN][1000 genomes]
rs11785454	0.90[ASN][1000 genomes]
rs12114195	0.82[ASN][1000 genomes]
rs12115063	0.82[ASN][1000 genomes]
rs12542030	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12545469	0.90[ASN][1000 genomes]
rs12545775	0.86[ASN][1000 genomes]
rs12545788	0.86[ASN][1000 genomes]
rs12547884	0.91[ASN][1000 genomes]
rs12549943	0.91[ASN][1000 genomes]
rs12674871	0.86[ASN][1000 genomes]
rs12680389	0.81[ASN][1000 genomes]
rs13249013	0.85[ASN][1000 genomes]
rs13256357	0.91[ASN][1000 genomes]
rs1466555	0.90[ASN][1000 genomes]
rs1484645	0.89[ASN][1000 genomes]
rs1564808	0.90[ASN][1000 genomes]
rs17151108	0.82[ASN][1000 genomes]
rs17151142	0.94[ASN][1000 genomes]
rs17151190	0.88[ASN][1000 genomes]
rs17151201	0.88[ASN][1000 genomes]
rs17155393	0.87[ASN][1000 genomes]
rs1984863	0.92[ASN][1000 genomes]
rs2016221	0.91[ASN][1000 genomes]
rs2898242	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4840463	0.84[ASN][1000 genomes]
rs4841279	0.82[ASN][1000 genomes]
rs4841283	0.90[ASN][1000 genomes]
rs62488697	0.81[ASN][1000 genomes]
rs66602888	0.86[ASN][1000 genomes]
rs6985791	0.90[ASN][1000 genomes]
rs7008407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008695	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7016690	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72626643	0.87[ASN][1000 genomes]
rs7830843	0.95[ASN][1000 genomes]
rs7843390	0.80[ASN][1000 genomes]
rs9329215	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963593	0.80[ASN][1000 genomes]
rs9644681	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9959800-9974000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9966000-9975800	Weak transcription	Right Atrium	heart
3	chr8:9967200-9975800	Weak transcription	Fetal Brain Male	brain
4	chr8:9967200-9977400	Weak transcription	Fetal Brain Female	brain
5	chr8:9970600-9995800	Weak transcription	Pancreas	Pancrea

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