Variant report

Variant	rs12730675
Chromosome Location	chr1:114094044-114094045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114084981..114088872-chr1:114091176..114094977,3	MCF-7	breast:
2	chr1:114078894..114080860-chr1:114093812..114095778,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489936	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1080307	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12723023	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12731010	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12731969	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12739970	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12746609	0.81[AMR][1000 genomes]
rs12753075	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12753351	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12758546	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17274550	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17274620	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17274634	0.84[ASN][1000 genomes]
rs17359302	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17508163	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17508814	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885454	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2359173	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2359174	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34258372	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34799402	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35320278	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35383900	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35836713	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3747998	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3748003	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3761931	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789595	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4581284	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55855422	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56257513	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817579	0.81[AMR][1000 genomes]
rs61819423	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819424	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61820162	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66782936	1.00[ASN][1000 genomes]
rs9803891	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv947128	chr1:114088844-114122533	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
2	chr1:114082600-114100400	Weak transcription	Fetal Kidney	kidney
3	chr1:114083200-114099800	Weak transcription	Pancreas	Pancrea
4	chr1:114083400-114095200	Weak transcription	Liver	Liver
5	chr1:114083400-114100000	Weak transcription	Ovary	ovary
6	chr1:114083400-114110000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:114084800-114095200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:114084800-114095600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:114085600-114094200	Weak transcription	NHDF-Ad	bronchial
10	chr1:114085600-114101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:114088200-114102000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:114088600-114099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:114088600-114101000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:114088600-114109800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:114088800-114094200	Weak transcription	NHEK	skin
16	chr1:114090400-114099800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:114091000-114099800	Weak transcription	Left Ventricle	heart
18	chr1:114091200-114101800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:114092000-114099600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:114092200-114099200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:114092400-114097200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:114092400-114099600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:114092400-114101600	Weak transcription	Adipose Nuclei	Adipose
24	chr1:114093200-114096200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:114093400-114099800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:114093600-114094200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:114093600-114094200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:114093600-114094400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:114093800-114094800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:114093800-114095200	Enhancers	HUVEC	blood vessel
31	chr1:114093800-114095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:114094000-114094600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:114094000-114095000	Enhancers	HMEC	breast
34	chr1:114094000-114095600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:114094000-114099600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:114094000-114104600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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