Variant report

Variant	rs73236164
Chromosome Location	chr4:56481533-56481534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56480747..56484464-chr4:56594012..56597947,4	K562	blood:
2	chr4:56479641..56482011-chr4:56491746..56493328,2	K562	blood:
3	chr4:56459697..56462267-chr4:56481406..56483258,2	K562	blood:
4	chr4:56481465..56483149-chr4:56595985..56597947,2	K562	blood:
5	chr4:56474369..56476951-chr4:56481028..56484786,4	K562	blood:
6	chr4:56472523..56475869-chr4:56480434..56484043,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11133406	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11722402	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11722645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11723011	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11727450	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11727729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11728776	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11729111	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11734493	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11735358	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11735654	0.93[AMR][1000 genomes]
rs11735815	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12499085	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12500147	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12502173	0.93[AMR][1000 genomes]
rs12503046	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12503479	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12506506	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12507525	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12508869	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12509559	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412668	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35256215	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55665531	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55885309	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56096459	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56260406	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73236154	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236155	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236163	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236166	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236167	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73236168	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73236171	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73236173	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73236174	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73236175	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73236178	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73236179	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73236181	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73236182	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73236183	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73236184	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73236185	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73236186	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73236187	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking 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	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2762435	chr4:56478362-56494039	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73236164	NMU	cis	Thyroid	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56473600-56491600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:56476200-56485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:56478200-56491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:56478600-56485000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:56479400-56481600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:56481000-56483400	Genic enhancers	K562	blood
7	chr4:56481200-56481600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:56481200-56481600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:56481200-56481600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:56481200-56481600	Enhancers	Esophagus	oesophagus
11	chr4:56481200-56481600	Enhancers	NHEK	skin

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