Variant report

Variant	rs10843478
Chromosome Location	chr12:29830068-29830069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10219522	0.80[EUR][1000 genomes]
rs10771569	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1079365	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843472	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843476	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843479	0.95[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10843480	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843481	0.80[EUR][1000 genomes]
rs10843482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843485	0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs11050350	0.91[CHB][hapmap]
rs11050359	0.90[CHB][hapmap]
rs11050361	0.90[CHB][hapmap]
rs11050396	0.85[CHB][hapmap]
rs12368564	0.91[CHB][hapmap]
rs6487843	0.91[CHB][hapmap]
rs7135501	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs741613	0.90[CHB][hapmap]
rs741614	0.91[CHB][hapmap]
rs993994	0.91[CHB][hapmap]

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	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	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29794400-29831800	Weak transcription	Ovary	ovary
2	chr12:29816600-29840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:29820400-29844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:29822400-29840200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29825400-29833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:29825800-29832800	Weak transcription	Small Intestine	intestine
9	chr12:29827000-29830600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:29827600-29830200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
12	chr12:29829200-29830200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:29829200-29830400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:29829400-29830200	Enhancers	Left Ventricle	heart
15	chr12:29829400-29830200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:29829400-29830200	Enhancers	HMEC	breast
17	chr12:29829400-29830200	Genic enhancers	HSMM	muscle
18	chr12:29829400-29830200	Enhancers	Osteobl	bone
19	chr12:29829400-29830600	Enhancers	Stomach Smooth Muscle	stomach
20	chr12:29829800-29830600	Weak transcription	Spleen	Spleen
21	chr12:29829800-29835200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:29829800-29841400	Weak transcription	Right Atrium	heart
23	chr12:29829800-29842800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:29830000-29830200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:29830000-29830600	Weak transcription	Psoas Muscle	Psoas
26	chr12:29830000-29835200	Weak transcription	Hela-S3	cervix
27	chr12:29830000-29837600	Weak transcription	HSMMtube	muscle
28	chr12:29830000-29842800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:29830000-29844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle

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