Variant report

Variant	rs16934597
Chromosome Location	chr12:29752572-29752573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11050323	0.88[CHB][hapmap]
rs11829731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11834291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11837554	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs12811228	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12816393	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs12822100	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12826893	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12826911	0.89[CHB][hapmap]
rs12828728	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs142565	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs148897	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs159688	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs159691	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs159692	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs159693	0.80[EUR][1000 genomes]
rs16934418	1.00[CHB][hapmap]
rs16934474	0.80[EUR][1000 genomes]
rs16934523	1.00[CHB][hapmap]
rs16934537	1.00[CHB][hapmap]
rs16934556	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs16934564	1.00[CHB][hapmap]
rs16934569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934635	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes]
rs1966531	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2288228	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs299477	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs299478	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs299482	1.00[CHB][hapmap]
rs299483	1.00[CHB][hapmap]
rs299485	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs55807951	0.94[EUR][1000 genomes]
rs55875020	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56178040	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56367916	0.81[EUR][1000 genomes]
rs57072643	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58290227	0.83[EUR][1000 genomes]
rs59519970	0.81[EUR][1000 genomes]
rs66750226	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66849216	0.94[EUR][1000 genomes]
rs67491988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301943	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73071556	0.81[EUR][1000 genomes]
rs73071582	0.83[EUR][1000 genomes]
rs73073417	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73073419	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74078415	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1051913	chr12:29741676-29770807	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29709800-29756200	Weak transcription	HMEC	breast
2	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
4	chr12:29736800-29762800	Weak transcription	Fetal Stomach	stomach
5	chr12:29737200-29761800	Weak transcription	Right Ventricle	heart
6	chr12:29737200-29762400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:29737200-29762800	Weak transcription	Psoas Muscle	Psoas
8	chr12:29743200-29769800	Weak transcription	NHLF	lung
9	chr12:29744400-29790800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:29744600-29752600	Weak transcription	Left Ventricle	heart
11	chr12:29744600-29754200	Weak transcription	Brain Anterior Caudate	brain
12	chr12:29744600-29765400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:29744600-29791000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:29744800-29764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:29744800-29778200	Weak transcription	Ovary	ovary
16	chr12:29745200-29755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:29745200-29762000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:29746200-29757200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:29746200-29762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:29747000-29757800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:29747400-29756400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:29748600-29762600	Weak transcription	Spleen	Spleen
23	chr12:29749200-29753600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:29750000-29762200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:29750400-29757000	Weak transcription	Aorta	Aorta
26	chr12:29750400-29762600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:29751000-29752600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:29751000-29752800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:29751600-29752800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:29751600-29753800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:29751800-29752600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:29751800-29752600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:29751800-29752600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:29751800-29752600	Enhancers	Adipose Nuclei	Adipose
35	chr12:29751800-29752800	Enhancers	Liver	Liver
36	chr12:29752000-29752600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:29752000-29752800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:29752000-29753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:29752000-29753400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:29752000-29753600	Enhancers	NHDF-Ad	bronchial
41	chr12:29752000-29753800	Enhancers	Osteobl	bone
42	chr12:29752200-29752600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr12:29752200-29752600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:29752200-29752600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:29752200-29752600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:29752200-29752600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:29752200-29752600	Enhancers	HSMMtube	muscle
48	chr12:29752200-29752600	Enhancers	NH-A	brain
49	chr12:29752200-29752800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:29752200-29752800	Enhancers	HSMM	muscle

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