Variant report

Variant	rs73318249
Chromosome Location	chr12:63287206-63287207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63284474..63287928-chr12:63291672..63294715,4	MCF-7	breast:
2	chr12:63285383..63287251-chr12:63297837..63299598,2	MCF-7	breast:
3	chr12:63280356..63282421-chr12:63284387..63287315,2	K562	blood:
4	chr12:63282634..63285463-chr12:63286553..63289663,4	MCF-7	breast:
5	chr12:63285182..63289284-chr12:63300308..63304182,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17098524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58689636	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318229	0.84[AFR][1000 genomes]
rs73318248	0.96[AFR][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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899161	chr12:63275017-63311148	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 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	chr12:63271600-63294400	Weak transcription	Ovary	ovary
2	chr12:63279400-63289200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:63281000-63293000	Weak transcription	Left Ventricle	heart
4	chr12:63281200-63293600	Weak transcription	Gastric	stomach
5	chr12:63282200-63295400	Weak transcription	Lung	lung
6	chr12:63284200-63291400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:63284800-63289000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:63285200-63287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:63285600-63287400	Enhancers	Stomach Mucosa	stomach
10	chr12:63285600-63291400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:63285800-63287600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:63286200-63287400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:63286200-63287400	Enhancers	Fetal Lung	lung
14	chr12:63286200-63288000	Enhancers	Fetal Intestine Large	intestine
15	chr12:63286200-63291400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:63286200-63291600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:63286200-63293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:63286400-63291400	Weak transcription	Brain Substantia Nigra	brain
19	chr12:63286400-63291600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:63286400-63291600	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:63286400-63293400	Weak transcription	A549	lung
22	chr12:63286600-63287400	Enhancers	Placenta	Placenta
23	chr12:63286600-63287800	Enhancers	Fetal Intestine Small	intestine
24	chr12:63286800-63287800	Weak transcription	Fetal Kidney	kidney
25	chr12:63286800-63291800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:63286800-63291800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:63287000-63287400	Enhancers	Pancreas	Pancrea
28	chr12:63287000-63287600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:63287200-63287400	Enhancers	Aorta	Aorta
30	chr12:63287200-63289200	Enhancers	HepG2	liver
31	chr12:63287200-63289600	Weak transcription	K562	blood

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