Variant report

Variant	rs3843541
Chromosome Location	chr7:100499142-100499143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100494057..100496619-chr7:100498348..100500354,3	MCF-7	breast:
2	chr7:100493681..100497136-chr7:100497914..100501900,6	K562	blood:
3	chr7:100499064..100501512-chr7:100503570..100506687,3	K562	blood:
4	chr7:100495042..100497121-chr7:100497583..100500198,2	MCF-7	breast:
5	chr7:100493681..100495805-chr7:100498828..100501071,2	K562	blood:

Variant related genes	Relation type
ENSG00000087085	Chromatin interaction
ENSG00000239825	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1054391	0.84[EUR][1000 genomes]
rs11973000	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12666785	0.85[EUR][1000 genomes]
rs12672665	0.85[EUR][1000 genomes]
rs12705097	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13225631	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13232524	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13240020	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs15624	0.85[EUR][1000 genomes]
rs2405973	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2405974	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2405975	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2571598	0.88[EUR][1000 genomes]
rs28852509	0.81[EUR][1000 genomes]
rs2894713	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs314369	0.80[EUR][1000 genomes]
rs314377	0.83[EUR][1000 genomes]
rs314378	0.83[EUR][1000 genomes]
rs34005963	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3757869	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3757870	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3757871	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3843542	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3847063	0.83[ASN][1000 genomes]
rs3847064	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3847068	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3931823	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4729615	0.84[EUR][1000 genomes]
rs4729617	0.85[EUR][1000 genomes]
rs4729619	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4729620	0.80[EUR][1000 genomes]
rs6465776	0.84[EUR][1000 genomes]
rs7783543	0.83[EUR][1000 genomes]
rs7798613	0.82[EUR][1000 genomes]
rs9718841	0.86[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100495400-100499800	Weak transcription	Colonic Mucosa	Colon
2	chr7:100498400-100500000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr7:100498400-100500200	Enhancers	Liver	Liver
4	chr7:100498400-100501200	Enhancers	Fetal Intestine Large	intestine
5	chr7:100498400-100501200	Enhancers	Fetal Intestine Small	intestine
6	chr7:100498400-100501200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:100498600-100499200	Enhancers	Stomach Mucosa	stomach
8	chr7:100498600-100500000	Enhancers	HepG2	liver
9	chr7:100498600-100500000	Enhancers	K562	blood
10	chr7:100498800-100504000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:100499000-100500200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:100499000-100500800	Weak transcription	Gastric	stomach
13	chr7:100499000-100504800	Weak transcription	Pancreas	Pancrea

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