Variant report

Variant	rs724309
Chromosome Location	chr1:47101015-47101016
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47093097..47096139-chr1:47100393..47103970,3	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10890410	0.87[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs11211332	0.90[EUR][1000 genomes]
rs11211343	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs11801744	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs12059860	1.00[CEU][hapmap]
rs12562113	0.86[AFR][1000 genomes]
rs12566278	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1258010	1.00[TSI][hapmap]
rs1258022	1.00[TSI][hapmap]
rs1258055	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1258058	1.00[ASW][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1258063	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1258064	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1258065	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1258066	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1258068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1258072	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs1268714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1273237	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13374909	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1745376	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1933932	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs2146560	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2181412	0.89[ASN][1000 genomes]
rs2241863	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs2241864	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs2439442	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2476153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2476155	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2476156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2476157	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2476159	0.90[EUR][1000 genomes]
rs2486160	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2486162	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3011290	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3737742	1.00[TSI][hapmap]
rs3766218	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs3766220	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap]
rs3766222	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs3766223	0.86[CHB][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.90[EUR][1000 genomes]
rs57495753	0.80[ASN][1000 genomes]
rs582269	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs582323	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs582760	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs583649	0.83[ASN][1000 genomes]
rs58678760	0.90[EUR][1000 genomes]
rs596794	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs597221	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs604233	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs604264	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs611919	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs629412	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs631368	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs631840	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs636082	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs636122	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs636424	0.81[ASN][1000 genomes]
rs648822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs654544	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs655369	0.81[ASN][1000 genomes]
rs657166	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6677350	1.00[CEU][hapmap]
rs669647	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs673134	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs675731	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs678466	0.84[ASN][1000 genomes]
rs683585	0.90[EUR][1000 genomes]
rs685862	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs689300	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs723333	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896683	0.89[ASN][1000 genomes]
rs736188	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9094	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]

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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1007280	chr1:47088116-47129588	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv945926	chr1:47100728-47104475	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47083200-47104600	Weak transcription	Stomach Mucosa	stomach
2	chr1:47083200-47115000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:47083400-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:47088600-47108600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:47088600-47108800	Weak transcription	Hela-S3	cervix
7	chr1:47089800-47112400	Weak transcription	Small Intestine	intestine
8	chr1:47090200-47121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:47091400-47105000	Weak transcription	HMEC	breast
10	chr1:47094200-47101600	Strong transcription	Left Ventricle	heart
11	chr1:47094200-47102600	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:47094200-47102600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr1:47094200-47103400	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:47094200-47105800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:47094400-47102400	Strong transcription	Brain Angular Gyrus	brain
16	chr1:47094400-47103800	Strong transcription	Primary T cells from cord blood	blood
17	chr1:47094600-47102600	Strong transcription	Adipose Nuclei	Adipose
18	chr1:47094600-47105600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:47094600-47111000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:47094600-47119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:47095200-47107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:47095400-47103600	Strong transcription	Liver	Liver
23	chr1:47095600-47102200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:47095600-47103000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:47095600-47103000	Strong transcription	Brain Cingulate Gyrus	brain
26	chr1:47095600-47103000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:47095600-47103200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:47095600-47104000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:47095600-47109000	Strong transcription	Placenta	Placenta
30	chr1:47095800-47104600	Weak transcription	A549	lung
31	chr1:47096000-47103400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:47096400-47103200	Strong transcription	Fetal Brain Female	brain
33	chr1:47096600-47101600	Strong transcription	Right Ventricle	heart
34	chr1:47096600-47101800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:47096600-47103800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:47096600-47105800	Strong transcription	Brain Anterior Caudate	brain
37	chr1:47096800-47102800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:47096800-47103000	Strong transcription	Brain Germinal Matrix	brain
39	chr1:47096800-47103600	Strong transcription	Brain Hippocampus Middle	brain
40	chr1:47096800-47103800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:47096800-47105600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:47097000-47101800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:47097000-47101800	Strong transcription	Fetal Thymus	thymus
44	chr1:47097000-47102400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:47097000-47102800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:47097000-47102800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:47097000-47103000	Strong transcription	Ovary	ovary
48	chr1:47097000-47103600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:47097000-47103600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:47097000-47104000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links