Variant report

Variant	rs4456614
Chromosome Location	chr18:8111888-8111889
allele	C/T
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	PAX5	chr18:8111808-8112000	GM12878	blood:	n/a	chr18:8111894-8111913 chr18:8111896-8111914 chr18:8111896-8111905

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16952894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952902	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17397183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397841	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17475401	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1942956	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs534675	0.92[ASN][1000 genomes]
rs538985	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550672	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs565798	0.89[CHB][hapmap]
rs641156	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs644183	0.89[CHB][hapmap]
rs6506549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs663105	0.89[CHB][hapmap]
rs7236194	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7241382	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73387768	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8082936	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8083862	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8095101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099028	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099174	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8088800-8113400	Weak transcription	A549	lung
3	chr18:8092800-8122200	Weak transcription	Thymus	Thymus
4	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea
5	chr18:8102800-8126600	Weak transcription	Psoas Muscle	Psoas
6	chr18:8103400-8116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:8103400-8116600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8103400-8123800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:8103600-8116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:8103600-8116400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:8103600-8117800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:8103600-8122200	Weak transcription	Aorta	Aorta
13	chr18:8103600-8124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
16	chr18:8103800-8116200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:8104200-8132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:8107600-8115200	Weak transcription	NHEK	skin
19	chr18:8107800-8115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:8108000-8115200	Weak transcription	HMEC	breast
21	chr18:8108000-8116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:8109200-8116000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:8110000-8123000	Weak transcription	Fetal Intestine Small	intestine
24	chr18:8110400-8116800	Weak transcription	Adipose Nuclei	Adipose
25	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:8110800-8114400	Weak transcription	Right Ventricle	heart
27	chr18:8111000-8116000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links