Variant report

Variant	rs2081164
Chromosome Location	chr5:42814630-42814631
allele	C/G
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	HEY1	chr5:42813588-42814709	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SEPP1	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10038990	1.00[ASN][1000 genomes]
rs10041108	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10041130	0.83[EUR][1000 genomes]
rs10045847	1.00[ASN][1000 genomes]
rs10045863	1.00[ASN][1000 genomes]
rs10056315	1.00[ASN][1000 genomes]
rs10067153	1.00[ASN][1000 genomes]
rs10070118	1.00[ASN][1000 genomes]
rs10070249	1.00[ASN][1000 genomes]
rs10072083	1.00[ASN][1000 genomes]
rs10072749	1.00[ASN][1000 genomes]
rs10941583	0.82[EUR][1000 genomes]
rs10941588	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1105983	1.00[ASN][1000 genomes]
rs1109882	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11951328	1.00[ASN][1000 genomes]
rs12514437	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13168440	1.00[ASN][1000 genomes]
rs13171505	1.00[ASN][1000 genomes]
rs13172646	1.00[ASN][1000 genomes]
rs13184699	0.82[AFR][1000 genomes]
rs13187223	1.00[ASN][1000 genomes]
rs13189374	1.00[ASN][1000 genomes]
rs1423655	0.90[EUR][1000 genomes]
rs230808	0.91[EUR][1000 genomes]
rs230811	0.91[EUR][1000 genomes]
rs28705009	1.00[ASN][1000 genomes]
rs28919899	1.00[ASN][1000 genomes]
rs28919913	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910854	0.90[EUR][1000 genomes]
rs2910860	0.90[EUR][1000 genomes]
rs2910863	0.90[EUR][1000 genomes]
rs2910866	0.90[EUR][1000 genomes]
rs2973008	0.90[EUR][1000 genomes]
rs34086275	1.00[ASN][1000 genomes]
rs34159518	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34829612	1.00[ASN][1000 genomes]
rs34831882	1.00[ASN][1000 genomes]
rs35566985	0.92[AFR][1000 genomes]
rs35904649	1.00[ASN][1000 genomes]
rs3877899	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242122	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4242123	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4242124	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4283796	1.00[ASN][1000 genomes]
rs4376276	0.82[EUR][1000 genomes]
rs4569879	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4637559	0.83[EUR][1000 genomes]
rs4866793	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4866955	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4866956	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4866957	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6413428	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414898	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6451641	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6451643	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6863953	1.00[ASN][1000 genomes]
rs6871947	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6873340	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6896899	1.00[ASN][1000 genomes]
rs71627561	1.00[ASN][1000 genomes]
rs7442754	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7444761	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7710105	1.00[ASN][1000 genomes]
rs7722920	1.00[ASN][1000 genomes]
rs9292859	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
15	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
16	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42812200-42815000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:42812600-42814800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:42812800-42814800	Weak transcription	Right Atrium	heart
4	chr5:42813200-42824400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:42813800-42814800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:42813800-42815800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:42813800-42816000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:42813800-42817200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:42814000-42819600	Enhancers	Liver	Liver
10	chr5:42814000-42821200	Weak transcription	Brain Substantia Nigra	brain
11	chr5:42814200-42816000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:42814200-42819600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:42814200-42822600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:42814600-42816000	Active TSS	HepG2	liver
15	chr5:42814600-42816600	Enhancers	HUES48 Cell Line	embryonic stem cell

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