Variant report

Variant	rs1813427
Chromosome Location	chr1:47998501-47998502
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	chr1:47997635..47999382-chr1:48000827..48002460,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11211529	1.00[EUR][1000 genomes]
rs11211536	1.00[EUR][1000 genomes]
rs12021515	1.00[EUR][1000 genomes]
rs12026379	1.00[EUR][1000 genomes]
rs12030146	1.00[EUR][1000 genomes]
rs12032801	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12049163	1.00[EUR][1000 genomes]
rs12049416	1.00[EUR][1000 genomes]
rs1680019	1.00[EUR][1000 genomes]
rs17103177	1.00[EUR][1000 genomes]
rs17103179	1.00[EUR][1000 genomes]
rs17103196	1.00[EUR][1000 genomes]
rs1765156	1.00[EUR][1000 genomes]
rs2253511	1.00[EUR][1000 genomes]
rs2506984	1.00[EUR][1000 genomes]
rs2622906	1.00[EUR][1000 genomes]
rs2622911	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3738317	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4926868	1.00[EUR][1000 genomes]
rs495482	1.00[EUR][1000 genomes]
rs506329	1.00[EUR][1000 genomes]
rs522768	1.00[EUR][1000 genomes]
rs527430	1.00[EUR][1000 genomes]
rs557101	1.00[EUR][1000 genomes]
rs60042036	1.00[EUR][1000 genomes]
rs607680	0.95[AFR][1000 genomes]
rs642750	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657700	0.95[AFR][1000 genomes]
rs6683513	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688278	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66904716	1.00[EUR][1000 genomes]
rs6703935	1.00[EUR][1000 genomes]
rs693036	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72480616	1.00[EUR][1000 genomes]
rs72553947	1.00[EUR][1000 genomes]
rs72553949	1.00[EUR][1000 genomes]
rs822886	1.00[JPT][hapmap]

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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47995600-47998600	Weak transcription	Liver	Liver
2	chr1:47995800-47998800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:47998000-47998600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr1:47998000-47998600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr1:47998000-47998600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr1:47998200-47998600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:47998200-47998600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:47998200-47998600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:47998200-47998600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:47998200-47998600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:47998200-47998600	Enhancers	Fetal Kidney	kidney
12	chr1:47998200-47998600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:47998200-47998600	Bivalent Enhancer	Dnd41	blood
14	chr1:47998200-47998800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:47998200-47998800	Enhancers	Fetal Intestine Small	intestine
16	chr1:47998400-47998600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:47998400-47998600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr1:47998400-47998600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr1:47998400-47998600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:47998400-47998600	Enhancers	Brain Anterior Caudate	brain
21	chr1:47998400-47998600	Enhancers	Brain Germinal Matrix	brain
22	chr1:47998400-47998600	Enhancers	Brain Substantia Nigra	brain
23	chr1:47998400-47998600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:47998400-47998600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:47998400-47998600	Bivalent/Poised TSS	Fetal Brain Male	brain
26	chr1:47998400-47998600	Enhancers	Pancreas	Pancrea
27	chr1:47998400-47998600	Active TSS	Stomach Smooth Muscle	stomach
28	chr1:47998400-47998600	Enhancers	NHLF	lung
29	chr1:47998400-47998600	Enhancers	Osteobl	bone
30	chr1:47998400-47998800	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr1:47998400-47998800	Enhancers	Right Ventricle	heart
32	chr1:47998400-47999400	Active TSS	HUES64 Cell Line	embryonic stem cell

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