Variant report

Variant	rs1352775
Chromosome Location	chr4:100600522-100600523
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100482549..100484844-chr4:100599474..100602380,2	MCF-7	breast:
2	chr4:100596383..100598271-chr4:100600474..100602564,2	K562	blood:
3	chr4:100599846..100602289-chr4:100612890..100615438,2	K562	blood:

Variant related genes	Relation type
ENSG00000145331	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1027223	0.95[ASN][1000 genomes]
rs10516445	0.83[CEU][hapmap]
rs10516455	0.95[ASN][1000 genomes]
rs1115721	0.95[ASN][1000 genomes]
rs11722443	0.89[ASN][1000 genomes]
rs11730739	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11936303	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12640222	0.89[ASN][1000 genomes]
rs12642668	0.82[ASN][1000 genomes]
rs12643245	0.89[ASN][1000 genomes]
rs12648843	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13111133	0.82[ASN][1000 genomes]
rs13111603	0.82[ASN][1000 genomes]
rs13112253	0.86[CEU][hapmap];0.97[CHD][hapmap];0.89[TSI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13118288	0.84[JPT][hapmap];0.97[ASN][1000 genomes]
rs13123629	0.97[ASN][1000 genomes]
rs13123690	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13124255	0.89[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs13130068	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13130949	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13150247	0.89[ASN][1000 genomes]
rs1388295	0.92[ASN][1000 genomes]
rs1426734	0.82[ASN][1000 genomes]
rs1582793	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1586756	0.95[ASN][1000 genomes]
rs1586757	0.96[ASN][1000 genomes]
rs17029387	0.89[ASN][1000 genomes]
rs1816197	0.90[ASN][1000 genomes]
rs1834659	0.82[ASN][1000 genomes]
rs1948353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2866167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35215295	0.95[ASN][1000 genomes]
rs36098323	0.94[ASN][1000 genomes]
rs61705069	0.88[ASN][1000 genomes]
rs6831328	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6832692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6840719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852647	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71614607	0.95[ASN][1000 genomes]
rs7670607	0.89[CHB][hapmap];0.93[CHD][hapmap];0.90[ASN][1000 genomes]
rs7677213	0.88[EUR][1000 genomes]
rs7677594	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7678889	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7688255	0.82[ASN][1000 genomes]
rs7691498	0.82[ASN][1000 genomes]
rs991811	0.83[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1352775	H2AFZ	cis	cerebellum	SCAN
rs1352775	ADH1B	cis	cerebellum	SCAN
rs1352775	MANBA	cis	parietal	SCAN
rs1352775	RARB	trans	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100598600-100601400	Weak transcription	Aorta	Aorta
2	chr4:100599600-100601600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:100599600-100601600	Enhancers	Ovary	ovary
4	chr4:100599800-100601400	Weak transcription	Left Ventricle	heart
5	chr4:100600400-100600600	Flanking Active TSS	Liver	Liver
6	chr4:100600400-100600800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:100600400-100600800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:100600400-100600800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:100600400-100600800	Enhancers	Adipose Nuclei	Adipose
10	chr4:100600400-100600800	Flanking Active TSS	Fetal Lung	lung
11	chr4:100600400-100600800	Enhancers	Pancreas	Pancrea
12	chr4:100600400-100601000	Enhancers	Fetal Heart	heart
13	chr4:100600400-100601000	Enhancers	Stomach Smooth Muscle	stomach
14	chr4:100600400-100601200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr4:100600400-100601400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:100600400-100601600	Enhancers	Fetal Muscle Leg	muscle
17	chr4:100600400-100601600	Enhancers	Psoas Muscle	Psoas

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