Variant report

Variant	rs1966531
Chromosome Location	chr12:29751348-29751349
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10492311	0.82[ASN][1000 genomes]
rs11829994	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11837554	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12310251	0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12424239	0.82[JPT][hapmap]
rs12811228	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12816393	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12822100	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12828728	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs159684	1.00[JPT][hapmap]
rs16934448	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs16934474	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16934556	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934569	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16934597	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16934635	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2288228	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299484	0.82[JPT][hapmap]
rs55793838	0.82[ASN][1000 genomes]
rs55807951	0.90[EUR][1000 genomes]
rs55875020	0.87[EUR][1000 genomes]
rs55970961	0.82[ASN][1000 genomes]
rs56178040	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56255721	0.82[ASN][1000 genomes]
rs56367916	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56398900	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57072643	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57816450	0.82[ASN][1000 genomes]
rs58290227	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59519970	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59915017	0.82[ASN][1000 genomes]
rs60743264	0.82[ASN][1000 genomes]
rs66750226	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66849216	0.90[EUR][1000 genomes]
rs67491988	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73069591	0.82[ASN][1000 genomes]
rs73069592	0.82[ASN][1000 genomes]
rs73069593	0.82[ASN][1000 genomes]
rs73069598	0.82[ASN][1000 genomes]
rs73071505	0.82[ASN][1000 genomes]
rs73071510	0.82[ASN][1000 genomes]
rs73071517	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071519	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071533	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071556	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071582	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073417	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73073419	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7315541	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs74078415	0.85[EUR][1000 genomes];1.00[ASN][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:47 , 50 per page) page: 1

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	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
5	chr12:29736000-29752200	Weak transcription	HSMM	muscle
6	chr12:29736800-29762800	Weak transcription	Fetal Stomach	stomach
7	chr12:29737200-29761800	Weak transcription	Right Ventricle	heart
8	chr12:29737200-29762400	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:29737200-29762800	Weak transcription	Psoas Muscle	Psoas
10	chr12:29742800-29752200	Weak transcription	HSMMtube	muscle
11	chr12:29743200-29751800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:29743200-29769800	Weak transcription	NHLF	lung
13	chr12:29744400-29790800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:29744600-29752600	Weak transcription	Left Ventricle	heart
15	chr12:29744600-29754200	Weak transcription	Brain Anterior Caudate	brain
16	chr12:29744600-29765400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:29744600-29791000	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:29744800-29764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:29744800-29778200	Weak transcription	Ovary	ovary
20	chr12:29745200-29751600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:29745200-29755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:29745200-29762000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:29745400-29752000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:29746200-29752200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:29746200-29757200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:29746200-29762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:29747000-29757800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:29747400-29756400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:29748600-29751800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:29748600-29751800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:29748600-29762600	Weak transcription	Spleen	Spleen
32	chr12:29749000-29751800	Weak transcription	Liver	Liver
33	chr12:29749200-29753600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:29749400-29752000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:29749800-29751800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:29750000-29751600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:29750000-29762200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:29750200-29752000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:29750400-29757000	Weak transcription	Aorta	Aorta
40	chr12:29750400-29762600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:29750800-29751400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:29751000-29751600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:29751000-29752400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:29751000-29752600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:29751000-29752800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:29751200-29752200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:29751200-29752200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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