Variant report

Variant	rs12127952
Chromosome Location	chr1:59214425-59214426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59212166..59214810-chr1:59218835..59222671,3	K562	blood:
2	chr1:59214317..59217323-chr1:59243104..59246296,3	K562	blood:
3	chr1:59212166..59214915-chr1:59219961..59222671,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10889118	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207303	0.85[ASN][1000 genomes]
rs11802053	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12021968	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12025067	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12028847	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1323283	0.87[ASN][1000 genomes]
rs1323285	0.91[ASN][1000 genomes]
rs1570480	0.83[ASN][1000 genomes]
rs1969772	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs2760484	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.87[ASN][1000 genomes]
rs2811874	0.87[ASN][1000 genomes]
rs6684756	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754829	chr1:59197556-59215791	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12127952	DAB1	cis	cerebellum	SCAN
rs12127952	MYSM1	cis	cerebellum	SCAN
rs12127952	TACSTD2	cis	multi-tissue	Pritchard
rs12127952	OMA1	cis	cerebellum	SCAN
rs12127952	MYSM1	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59206200-59221000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:59207600-59220000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:59207800-59220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:59207800-59220000	Weak transcription	Psoas Muscle	Psoas
5	chr1:59208000-59215000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:59211600-59218200	Weak transcription	NHDF-Ad	bronchial
7	chr1:59211600-59221000	Weak transcription	Stomach Mucosa	stomach
8	chr1:59212000-59220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:59212200-59218200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:59212600-59214800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:59212600-59215000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:59212600-59215000	Weak transcription	NHEK	skin
13	chr1:59212600-59218800	Weak transcription	NH-A	brain
14	chr1:59212800-59215000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:59212800-59218200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:59212800-59218600	Weak transcription	HMEC	breast
17	chr1:59212800-59218600	Weak transcription	NHLF	lung
18	chr1:59213000-59218400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:59213600-59216400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:59214000-59215200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:59214000-59215400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:59214000-59215800	Enhancers	Brain Germinal Matrix	brain
23	chr1:59214200-59215000	Enhancers	Fetal Kidney	kidney
24	chr1:59214200-59215000	Enhancers	Fetal Muscle Leg	muscle
25	chr1:59214200-59215200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:59214200-59215200	Enhancers	Fetal Stomach	stomach
27	chr1:59214200-59215400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:59214200-59215400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:59214200-59215400	Enhancers	Fetal Brain Male	brain
30	chr1:59214200-59215400	Enhancers	Fetal Lung	lung
31	chr1:59214400-59214800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:59214400-59214800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:59214400-59215000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:59214400-59215200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr1:59214400-59215200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:59214400-59215200	Enhancers	Fetal Brain Female	brain
37	chr1:59214400-59215600	Enhancers	HUVEC	blood vessel
38	chr1:59214400-59218400	Enhancers	HepG2	liver

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