Variant report

Variant	rs4146244
Chromosome Location	chr2:183452578-183452579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183410632..183412807-chr2:183450091..183453006,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10166852	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10460375	0.85[EUR][1000 genomes]
rs10460376	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497608	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10497609	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10754995	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11893013	0.87[ASN][1000 genomes]
rs12617446	0.87[ASN][1000 genomes]
rs12693314	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1405946	0.89[ASN][1000 genomes]
rs1527880	0.90[ASN][1000 genomes]
rs1527881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1527882	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1949999	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1997240	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5022567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433981	0.89[ASN][1000 genomes]
rs7557703	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7587971	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875479	chr2:183442443-183482466	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4146244	PDE1A	cis	parietal	SCAN
rs4146244	NEUROD1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183449800-183452600	Weak transcription	Fetal Heart	heart
2	chr2:183451000-183453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:183451000-183453200	Enhancers	HSMMtube	muscle
4	chr2:183451000-183453400	Enhancers	NHDF-Ad	bronchial
5	chr2:183451200-183453000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:183451200-183453000	Enhancers	HSMM	muscle
7	chr2:183451200-183453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:183451600-183453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:183451600-183453400	Enhancers	NHLF	lung
10	chr2:183451800-183453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:183451800-183453400	Enhancers	NH-A	brain
12	chr2:183451800-183453400	Enhancers	Osteobl	bone
13	chr2:183452000-183456200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:183452000-183457600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:183452000-183457800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:183452200-183452600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:183452200-183456400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:183452200-183456600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:183452200-183457800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:183452400-183452600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:183452400-183452600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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