Variant report

Variant	rs172543
Chromosome Location	chr12:29866487-29866488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs169987	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs302373	0.87[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap]
rs302374	0.90[CEU][hapmap];0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs302377	0.87[CHB][hapmap]
rs302385	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs433275	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59499757	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs754911	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs754912	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963288	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7963457	0.85[AFR][1000 genomes];0.83[AMR][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:47 , 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	chr12:29859200-29867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:29862000-29867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:29862600-29868000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:29863000-29867600	Weak transcription	Small Intestine	intestine
8	chr12:29863200-29867400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:29863200-29868400	Enhancers	Colon Smooth Muscle	Colon
10	chr12:29863200-29878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:29863400-29867000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:29863400-29870000	Weak transcription	Aorta	Aorta
13	chr12:29863400-29872000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:29863400-29878200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:29863400-29878200	Weak transcription	Right Ventricle	heart
16	chr12:29863400-29878800	Weak transcription	Fetal Kidney	kidney
17	chr12:29863400-29879000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:29864200-29872400	Weak transcription	Left Ventricle	heart
20	chr12:29864200-29879400	Weak transcription	Right Atrium	heart
21	chr12:29864400-29867000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:29864400-29868600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:29864600-29878400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:29864600-29878600	Weak transcription	HSMM	muscle
25	chr12:29865200-29867600	Weak transcription	NHDF-Ad	bronchial
26	chr12:29865600-29867000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:29865600-29867000	Enhancers	NHEK	skin
28	chr12:29865600-29867800	Enhancers	Adipose Nuclei	Adipose
29	chr12:29865600-29868000	Enhancers	HMEC	breast
30	chr12:29865600-29868800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:29865800-29866600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:29865800-29867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:29865800-29867800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:29865800-29868000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:29866000-29866600	Enhancers	Fetal Brain Male	brain
36	chr12:29866000-29867000	Enhancers	Osteobl	bone
37	chr12:29866000-29867800	Enhancers	HSMMtube	muscle
38	chr12:29866000-29868000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:29866000-29879000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:29866200-29866600	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:29866200-29866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:29866200-29866800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:29866200-29867400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:29866200-29867800	Enhancers	Psoas Muscle	Psoas
45	chr12:29866200-29868400	Enhancers	Hela-S3	cervix
46	chr12:29866400-29866600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:29866400-29879000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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