Variant report

Variant	rs73130084
Chromosome Location	chr12:63206230-63206231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62859450..62861977-chr12:63203798..63206343,2	K562	blood:
2	chr12:62995726..62998366-chr12:63204238..63207426,3	MCF-7	breast:
3	chr12:63205779..63208274-chr12:63327328..63329891,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000111110	Chromatin interaction
ENSG00000061987	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10506448	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506450	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877914	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877917	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877918	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877919	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877920	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174655	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174656	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174658	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174659	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174660	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174663	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174665	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174667	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174669	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174677	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174678	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11174681	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174682	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174684	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174685	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174689	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11495591	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615499	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12367672	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369052	0.88[ASN][1000 genomes]
rs12371724	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120377	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17735307	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1908185	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337516	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337517	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912983	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378444	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132872	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73130065	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130066	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130069	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73130081	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130086	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73130088	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73130089	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135674	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73135684	0.83[AFR][1000 genomes];0.80[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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
2	chr12:63187800-63206400	Weak transcription	Osteobl	bone
3	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:63193400-63206800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:63196000-63206600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:63196000-63206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:63196000-63206800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:63196000-63206800	Weak transcription	Right Ventricle	heart
15	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:63196000-63225800	Weak transcription	Gastric	stomach
18	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:63197400-63206600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:63198000-63206600	Weak transcription	Brain Substantia Nigra	brain
21	chr12:63199200-63206600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:63200600-63206800	Weak transcription	Lung	lung
23	chr12:63201400-63207200	Strong transcription	HepG2	liver
24	chr12:63203400-63206600	Weak transcription	GM12878-XiMat	blood
25	chr12:63204200-63207000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:63204800-63206800	Enhancers	Primary T cells from cord blood	blood
27	chr12:63205200-63206600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:63205200-63206600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63205400-63206600	Weak transcription	Fetal Thymus	thymus
30	chr12:63205600-63206600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:63205800-63207200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:63205800-63211400	Weak transcription	K562	blood
33	chr12:63206000-63206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:63206000-63206800	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:63206000-63206800	Enhancers	Brain Hippocampus Middle	brain
36	chr12:63206000-63206800	Enhancers	Dnd41	blood
37	chr12:63206200-63206800	Enhancers	Brain Anterior Caudate	brain
38	chr12:63206200-63207200	Enhancers	NH-A	brain

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