Variant report

Variant	rs10743671
Chromosome Location	chr12:29874353-29874354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10771573	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771574	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10771575	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10843496	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050409	0.84[CEU][hapmap]
rs4931213	0.94[AFR][1000 genomes]
rs7136483	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7959334	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29854400-29879000	Weak transcription	Ovary	ovary
2	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:29855800-29891200	Weak transcription	NHLF	lung
4	chr12:29863200-29878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:29863400-29878200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:29863400-29878200	Weak transcription	Right Ventricle	heart
7	chr12:29863400-29878800	Weak transcription	Fetal Kidney	kidney
8	chr12:29863400-29879000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:29864200-29879400	Weak transcription	Right Atrium	heart
11	chr12:29864600-29878400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:29864600-29878600	Weak transcription	HSMM	muscle
13	chr12:29866000-29879000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:29866400-29879000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:29867600-29878400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:29867800-29878200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:29867800-29878200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:29867800-29878200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:29867800-29881200	Weak transcription	Small Intestine	intestine
20	chr12:29868000-29878200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:29868000-29878800	Weak transcription	NHDF-Ad	bronchial
22	chr12:29868000-29885000	Weak transcription	HMEC	breast
23	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:29868800-29878400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:29871200-29875000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:29871200-29878800	Weak transcription	Brain Substantia Nigra	brain
27	chr12:29872600-29878800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:29872600-29884000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:29873000-29880800	Weak transcription	Hela-S3	cervix
30	chr12:29873200-29878200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:29873200-29880800	Weak transcription	Spleen	Spleen
32	chr12:29873400-29878000	Weak transcription	Left Ventricle	heart
33	chr12:29873400-29878200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:29873400-29878400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:29873400-29878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:29873400-29879000	Weak transcription	Psoas Muscle	Psoas
37	chr12:29873400-29879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:29873600-29875200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:29873800-29874800	Weak transcription	Colon Smooth Muscle	Colon

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