Variant report

Variant	rs2918330
Chromosome Location	chr19:36749504-36749505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10418925	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs11084857	0.85[CEU][hapmap];0.95[CHB][hapmap]
rs1127406	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1129375	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1129376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11672641	0.88[ASN][1000 genomes]
rs11882601	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12460237	0.91[CHB][hapmap]
rs12609058	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17206365	1.00[CEU][hapmap]
rs17639740	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2432048	0.90[CHB][hapmap]
rs2432053	0.84[CEU][hapmap];0.91[CHB][hapmap]
rs2432055	0.91[CHB][hapmap]
rs2910681	0.91[CHB][hapmap]
rs2918325	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs2918328	0.83[ASN][1000 genomes]
rs2918331	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2918334	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2918355	0.81[ASN][1000 genomes]
rs2918358	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2918377	0.91[CHB][hapmap]
rs2918384	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2967490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2967491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2972528	0.83[ASN][1000 genomes]
rs2972530	0.84[AMR][1000 genomes]
rs2972533	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2972540	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs2972545	0.86[AMR][1000 genomes]
rs2972548	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2972550	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2972551	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2972554	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2972630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2972631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2972643	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2972654	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2972655	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4806289	0.81[AMR][1000 genomes]
rs4806291	0.90[ASN][1000 genomes]
rs6510528	0.86[CHB][hapmap]
rs7254149	0.81[ASN][1000 genomes]
rs9797716	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1063208	chr19:36743461-36847486	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv961212	chr19:36744378-36801298	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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	nsv960831	chr19:36744378-36813769	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2918330	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36739600-36756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:36745800-36750600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:36747000-36750000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:36747800-36749600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr19:36747800-36749600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:36747800-36749600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:36747800-36749800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:36747800-36749800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:36748000-36749600	ZNF genes & repeats	Liver	Liver
10	chr19:36748000-36749600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:36748800-36762800	Weak transcription	Right Atrium	heart
12	chr19:36749000-36749600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:36749200-36749600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:36749200-36749600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:36749200-36749600	ZNF genes & repeats	Fetal Brain Female	brain
16	chr19:36749200-36762800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:36749200-36764800	Weak transcription	Brain Substantia Nigra	brain
18	chr19:36749400-36749600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:36749400-36749600	Enhancers	Brain Hippocampus Middle	brain
20	chr19:36749400-36749600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:36749400-36749600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr19:36749400-36749800	Enhancers	Brain Anterior Caudate	brain
23	chr19:36749400-36749800	Enhancers	Brain Cingulate Gyrus	brain
24	chr19:36749400-36762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:36749400-36764200	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links