Variant report

Variant	rs1318558
Chromosome Location	chr4:90879586-90879587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10516858	0.83[EUR][1000 genomes]
rs1117840	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1117841	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11933698	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11939062	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11939159	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11941275	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12639636	0.81[EUR][1000 genomes]
rs12642395	0.83[EUR][1000 genomes]
rs12642404	0.83[EUR][1000 genomes]
rs12643741	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12651123	0.81[EUR][1000 genomes]
rs13121853	0.83[EUR][1000 genomes]
rs13124183	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13126339	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13131070	0.83[EUR][1000 genomes]
rs13131903	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13143093	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13150124	0.83[EUR][1000 genomes]
rs1318557	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1443799	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1479427	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1479429	0.96[ASN][1000 genomes]
rs1479430	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17195014	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17808648	0.83[EUR][1000 genomes]
rs1982293	0.83[EUR][1000 genomes]
rs2120375	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34064092	0.83[EUR][1000 genomes]
rs34343229	0.83[EUR][1000 genomes]
rs34886505	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34997679	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35197902	0.81[EUR][1000 genomes]
rs35817029	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3822098	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55663876	0.83[EUR][1000 genomes]
rs55686873	0.81[EUR][1000 genomes]
rs62312682	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62312688	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62312690	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62312738	0.83[EUR][1000 genomes]
rs62312743	0.81[EUR][1000 genomes]
rs6830014	0.83[EUR][1000 genomes]
rs6854896	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7660182	0.83[EUR][1000 genomes]
rs7662354	0.97[ASN][1000 genomes]
rs7667606	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs920805	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs992612	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv997700	chr4:90791866-90920021	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830005	chr4:90799398-90963420	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1003903	chr4:90831805-90947922	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1011876	chr4:90851535-90952723	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv998230	chr4:90854555-90952723	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv999030	chr4:90859531-90952723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv432616	chr4:90862943-90952424	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv516189	chr4:90866819-90952424	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv594821	chr4:90871561-90962886	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1793223	chr4:90876066-90880889	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90876800-90882000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:90878800-90880000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:90878800-90882800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:90879200-90882000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:90879200-90892200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:90879400-90882400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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