Variant report

Variant	rs71612675
Chromosome Location	chr4:100141968-100141969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs13103321	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13117459	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13120304	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13120422	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13121287	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13121365	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13123099	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13131794	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13133796	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13134764	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13142106	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13145195	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13145277	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13145564	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13147646	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1353621	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1497377	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1497379	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17583844	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17583939	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1826909	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2018613	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28364283	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28364305	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28364311	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28364312	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs33991678	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34137709	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34369278	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34713251	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34798061	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34872350	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34916399	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34928642	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35235194	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35617032	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35743364	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35765787	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35979317	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36083197	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55812286	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55972871	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66673210	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66715038	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67077969	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67440558	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6811453	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6837311	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6837649	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6850217	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71612680	0.82[EUR][1000 genomes]
rs7439160	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7655945	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7663184	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7694752	0.97[AMR][1000 genomes];0.96[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100127000-100142600	Weak transcription	Small Intestine	intestine
2	chr4:100129000-100143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:100131400-100143000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:100140400-100142600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:100140400-100143000	Weak transcription	Fetal Kidney	kidney
6	chr4:100140600-100143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:100141000-100142400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:100141000-100142800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:100141000-100142800	Weak transcription	Fetal Lung	lung
10	chr4:100141000-100142800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:100141000-100143000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:100141000-100143200	Weak transcription	Stomach Mucosa	stomach
13	chr4:100141200-100142800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:100141200-100143000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:100141200-100143000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:100141200-100144000	Enhancers	HepG2	liver
17	chr4:100141400-100143000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:100141600-100143400	Weak transcription	Liver	Liver

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