Variant report

Variant	rs12633997
Chromosome Location	chr3:142467970-142467971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11929107	0.89[CHB][hapmap]
rs12630674	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12635435	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12636864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3732744	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3773502	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58391606	1.00[ASN][1000 genomes]
rs60187044	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6806564	1.00[ASN][1000 genomes]
rs7643289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591920	chr3:142411200-142496951	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv521098	chr3:142411200-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv518623	chr3:142417070-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142444400-142469600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:142445000-142479000	Weak transcription	Fetal Brain Female	brain
3	chr3:142452800-142489000	Weak transcription	Aorta	Aorta
4	chr3:142458000-142482800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:142459000-142470000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:142461800-142470600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:142464800-142493200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:142465000-142469000	Weak transcription	K562	blood
9	chr3:142465400-142468000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:142465600-142471800	Weak transcription	HepG2	liver
11	chr3:142466000-142469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:142466000-142488400	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:142466200-142474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:142466400-142478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:142466400-142479000	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:142467000-142468400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:142467000-142468400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:142467000-142468400	Strong transcription	A549	lung
19	chr3:142467000-142468400	Strong transcription	NHDF-Ad	bronchial
20	chr3:142467000-142468400	Strong transcription	Osteobl	bone
21	chr3:142467000-142469800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:142467200-142468000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:142467200-142468200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:142467200-142468400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:142467200-142468400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:142467200-142468400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:142467200-142468400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:142467200-142468400	Strong transcription	Left Ventricle	heart
29	chr3:142467200-142468400	Strong transcription	NH-A	brain
30	chr3:142467200-142468600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:142467200-142468800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:142467200-142468800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:142467200-142468800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:142467200-142469200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:142467200-142469600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:142467200-142470600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:142467400-142468000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr3:142467400-142468200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr3:142467400-142468200	Strong transcription	Brain Anterior Caudate	brain
40	chr3:142467400-142468200	Strong transcription	Fetal Brain Male	brain
41	chr3:142467400-142468200	Strong transcription	Ovary	ovary
42	chr3:142467400-142468400	Strong transcription	HMEC	breast
43	chr3:142467400-142468400	Strong transcription	HSMM	muscle
44	chr3:142467400-142468600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:142467600-142468200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:142467600-142468200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr3:142467600-142468400	Strong transcription	Brain Germinal Matrix	brain
48	chr3:142467600-142468400	Strong transcription	Fetal Lung	lung
49	chr3:142467600-142468600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:142467600-142469600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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