Variant report

Variant	rs2405974
Chromosome Location	chr7:100508288-100508289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr7:100508090-100508308	K562	blood:	n/a	n/a
2	JUND	chr7:100508153-100508306	K562	blood:	n/a	n/a
3	SPI1	chr7:100507983-100508362	HL-60	blood:	n/a	chr7:100508229-100508242
4	ZNF384	chr7:100507976-100508493	K562	blood:	n/a	n/a
5	TEAD4	chr7:100507862-100508387	K562	blood:	n/a	n/a
6	CREB1	chr7:100508094-100508409	K562	blood:	n/a	n/a
7	CBX3	chr7:100508070-100508492	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100507577..100512312-chr7:100514268..100518722,4	K562	blood:
2	chr7:100507771..100510217-chr7:100514879..100518722,4	K562	blood:

Variant related genes	Relation type
RN7SL549P	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1054391	0.89[EUR][1000 genomes]
rs11973000	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11978697	0.81[EUR][1000 genomes]
rs12666785	0.90[EUR][1000 genomes]
rs12672665	0.89[EUR][1000 genomes]
rs12705097	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13225631	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13232524	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13240020	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13241786	0.81[EUR][1000 genomes]
rs15624	0.90[EUR][1000 genomes]
rs1799806	0.81[EUR][1000 genomes]
rs2405973	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2405975	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571598	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28852509	0.86[EUR][1000 genomes]
rs2894713	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs314369	0.83[EUR][1000 genomes]
rs314375	0.84[EUR][1000 genomes]
rs314377	0.88[EUR][1000 genomes]
rs314378	0.87[EUR][1000 genomes]
rs34005963	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3757869	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3757870	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3757871	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3843541	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3843542	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3847064	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3847068	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3931823	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4729615	0.88[EUR][1000 genomes]
rs4729617	0.90[EUR][1000 genomes]
rs4729619	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6465776	0.89[EUR][1000 genomes]
rs7783543	0.87[EUR][1000 genomes]
rs7798613	0.83[EUR][1000 genomes]
rs9718841	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100504200-100511200	Weak transcription	Gastric	stomach
2	chr7:100504200-100516400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100505000-100509600	Weak transcription	Pancreas	Pancrea
4	chr7:100507600-100509000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:100507600-100510000	Enhancers	Fetal Intestine Large	intestine
6	chr7:100507600-100510000	Enhancers	Fetal Intestine Small	intestine
7	chr7:100507600-100510400	Enhancers	Stomach Mucosa	stomach
8	chr7:100507800-100508600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:100507800-100510400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:100507800-100513800	Weak transcription	Colonic Mucosa	Colon
11	chr7:100508200-100508400	Enhancers	K562	blood
12	chr7:100508200-100510000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:100508200-100510200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:100508200-100510200	Enhancers	Monocytes-CD14+_RO01746	blood

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