Variant report

Variant	rs3847068
Chromosome Location	chr7:100500745-100500746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100493681..100497136-chr7:100497914..100501900,6	K562	blood:
2	chr7:100500464..100503026-chr7:100509037..100510644,2	MCF-7	breast:
3	chr7:100499064..100501512-chr7:100503570..100506687,3	K562	blood:
4	chr7:100499833..100501512-chr7:100504234..100506396,2	K562	blood:
5	chr7:100493681..100495805-chr7:100498828..100501071,2	K562	blood:
6	chr7:100485537..100488040-chr7:100500496..100502585,2	K562	blood:

Variant related genes	Relation type
ENSG00000176125	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000239825	Chromatin interaction
ENSG00000087085	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1054391	0.91[EUR][1000 genomes]
rs10953305	0.96[ASN][1000 genomes]
rs11973000	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978697	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12666785	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12672665	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12705097	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13225631	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13232524	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13240020	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13241786	0.84[EUR][1000 genomes]
rs15624	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1799806	0.84[EUR][1000 genomes]
rs2405973	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2405974	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2405975	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2571598	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28852509	0.87[EUR][1000 genomes]
rs2894713	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314369	0.86[EUR][1000 genomes]
rs314375	0.87[EUR][1000 genomes]
rs314377	0.90[EUR][1000 genomes]
rs314378	0.91[EUR][1000 genomes]
rs34005963	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3757869	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757870	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757871	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3843541	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3843542	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3847063	0.97[ASN][1000 genomes]
rs3847064	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3931823	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727469	0.84[ASN][1000 genomes]
rs4727470	0.84[ASN][1000 genomes]
rs4729615	0.92[EUR][1000 genomes]
rs4729617	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4729619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4729620	0.84[ASN][1000 genomes]
rs6465776	0.91[EUR][1000 genomes]
rs6976053	0.81[ASN][1000 genomes]
rs7783543	0.91[EUR][1000 genomes]
rs7798613	0.86[EUR][1000 genomes]
rs7803865	0.84[ASN][1000 genomes]
rs9718841	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100498400-100501200	Enhancers	Fetal Intestine Large	intestine
2	chr7:100498400-100501200	Enhancers	Fetal Intestine Small	intestine
3	chr7:100498400-100501200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr7:100498800-100504000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:100499000-100500800	Weak transcription	Gastric	stomach
6	chr7:100499000-100504800	Weak transcription	Pancreas	Pancrea
7	chr7:100499600-100500800	Enhancers	Stomach Mucosa	stomach
8	chr7:100500400-100501000	Enhancers	Rectal Mucosa Donor 29	rectum

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