Variant report

Variant	rs12758284
Chromosome Location	chr1:183963714-183963715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183961286..183963982-chr1:183968217..183971104,2	K562	blood:
2	chr1:183958400..183961976-chr1:183962381..183964595,3	MCF-7	breast:
3	chr1:183960814..183964482-chr1:183999770..184002414,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12089543	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727244	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746606	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748062	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753441	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12756153	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756229	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12760593	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34922778	1.00[ASN][1000 genomes]
rs35418511	1.00[ASN][1000 genomes]
rs4650648	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651163	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183953000-183965200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:183953800-183965200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:183954000-183965600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:183955000-183971200	Weak transcription	Right Atrium	heart
6	chr1:183957600-183965200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:183958400-183964600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:183958600-183965200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:183958600-183974200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:183958800-183964400	Weak transcription	NHLF	lung
11	chr1:183958800-183964600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:183958800-183971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:183961400-183964200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:183961400-183964400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:183961400-183964400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:183961400-183964600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:183961400-183965200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:183961400-183965200	Weak transcription	Pancreas	Pancrea
19	chr1:183961400-183970800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:183961600-183964600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:183963000-183964200	Weak transcription	Stomach Mucosa	stomach
22	chr1:183963000-183964600	Weak transcription	NHEK	skin
23	chr1:183963000-183967000	Weak transcription	HMEC	breast
24	chr1:183963000-183969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:183963200-183963800	Weak transcription	HepG2	liver
26	chr1:183963200-183964400	Weak transcription	K562	blood

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