Variant report

Variant	rs972302
Chromosome Location	chr5:146767324-146767325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10042298	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10515581	0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs10515582	0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs10515583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11167988	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes]
rs11167989	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12513884	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12514302	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12518250	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs12518292	0.90[AMR][1000 genomes]
rs12520080	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs12520257	0.89[AMR][1000 genomes]
rs12520436	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12651731	0.93[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes]
rs12653560	0.84[AMR][1000 genomes]
rs1432838	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1432839	0.89[ASN][1000 genomes]
rs1432853	0.80[AMR][1000 genomes]
rs1432854	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs1432855	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs1432856	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs1432857	0.85[CHB][hapmap];0.84[AMR][1000 genomes]
rs1544816	0.89[AMR][1000 genomes]
rs17106470	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs17106482	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs17106492	0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs17106560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17106572	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17106575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17106590	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17106592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17106597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17106606	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17106607	0.88[CHD][hapmap];0.94[ASN][1000 genomes]
rs17106679	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs17106682	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs17106683	0.80[CHB][hapmap]
rs17106686	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs17106688	0.80[CHB][hapmap];0.80[CHD][hapmap]
rs17106689	0.80[CHB][hapmap]
rs17106690	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs17106698	0.84[AMR][1000 genomes]
rs17106709	0.84[AMR][1000 genomes]
rs1895566	0.84[AMR][1000 genomes]
rs2288800	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs2288805	0.87[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2288809	0.87[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2304043	0.95[AMR][1000 genomes]
rs2304047	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2895681	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213857	0.87[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3749721	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3792837	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3792839	0.80[CHB][hapmap]
rs3792840	0.85[JPT][hapmap]
rs3792841	0.86[AMR][1000 genomes]
rs3792844	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs3792846	0.80[CHB][hapmap]
rs3805533	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3805534	0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3805535	0.93[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs3805539	0.84[AMR][1000 genomes]
rs3805540	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs3805542	0.84[AMR][1000 genomes]
rs3805543	0.80[AMR][1000 genomes]
rs3805545	0.80[AMR][1000 genomes]
rs3816012	0.80[CHB][hapmap];0.86[AMR][1000 genomes]
rs4642416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61405762	0.89[ASN][1000 genomes]
rs6891468	0.80[CHB][hapmap]
rs73262265	0.89[ASN][1000 genomes]
rs7714240	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146762800-146767600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:146762800-146767600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:146762800-146767600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:146762800-146767600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:146762800-146767800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:146762800-146770400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:146762800-146770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:146762800-146770400	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:146762800-146770600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:146762800-146770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:146762800-146770600	Weak transcription	Fetal Stomach	stomach
12	chr5:146762800-146771000	Weak transcription	NHLF	lung
13	chr5:146762800-146772200	Weak transcription	Adipose Nuclei	Adipose
14	chr5:146762800-146772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:146762800-146772600	Weak transcription	Aorta	Aorta
16	chr5:146762800-146773200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:146762800-146773800	Weak transcription	Osteobl	bone
18	chr5:146762800-146775600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:146762800-146775600	Weak transcription	Placenta	Placenta
20	chr5:146762800-146775600	Weak transcription	Left Ventricle	heart
21	chr5:146762800-146775600	Weak transcription	Right Ventricle	heart
22	chr5:146762800-146783400	Weak transcription	Pancreas	Pancrea
23	chr5:146762800-146784200	Weak transcription	Colonic Mucosa	Colon
24	chr5:146763000-146767400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:146763000-146767600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:146763000-146767800	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:146763000-146768000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:146763000-146770400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:146763000-146770800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:146763000-146771200	Weak transcription	NHDF-Ad	bronchial
31	chr5:146763000-146772600	Weak transcription	Brain Anterior Caudate	brain
32	chr5:146763000-146775000	Weak transcription	Fetal Intestine Small	intestine
33	chr5:146763000-146775200	Weak transcription	Right Atrium	heart
34	chr5:146763200-146770600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:146764200-146769600	Weak transcription	NH-A	brain
36	chr5:146764400-146767600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:146764400-146767600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:146764400-146772600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:146764400-146777400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:146764600-146767400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:146764600-146767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:146764600-146767600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:146764600-146768200	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:146764600-146772600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:146765200-146770800	Weak transcription	HUVEC	blood vessel
46	chr5:146765400-146768800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:146765800-146770400	Weak transcription	Fetal Brain Female	brain
48	chr5:146766200-146767800	Weak transcription	Brain Germinal Matrix	brain
49	chr5:146766200-146770600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:146766200-146775400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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