Variant report

Variant	rs73130066
Chromosome Location	chr12:63196133-63196134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62993432..63001334-chr12:63185505..63196473,30	MCF-7	breast:
2	chr12:63196043..63196896-chr12:63206741..63207439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10506448	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10506449	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10506450	0.83[ASN][1000 genomes]
rs10877914	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877917	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877918	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877919	0.83[AFR][1000 genomes]
rs10877920	0.83[AFR][1000 genomes]
rs11174651	0.83[AFR][1000 genomes]
rs11174655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174657	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174658	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174659	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174660	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174661	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174662	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174663	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174664	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174665	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174666	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174667	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174668	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174669	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174677	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11174678	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11174681	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11174684	0.83[AFR][1000 genomes]
rs11174685	0.83[AFR][1000 genomes]
rs11174689	0.83[AFR][1000 genomes]
rs11495591	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11615499	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12367672	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12371724	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17735307	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1908185	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs337516	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs337517	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3912983	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4378444	0.81[ASN][1000 genomes]
rs7132872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73130065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73130069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73130081	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130084	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130086	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73130088	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73130089	0.83[ASN][1000 genomes]
rs73135684	0.83[AFR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
2	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
3	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
4	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:63181200-63200400	Weak transcription	Lung	lung
6	chr12:63186400-63198000	Weak transcription	Ovary	ovary
7	chr12:63187800-63196800	Weak transcription	Brain Angular Gyrus	brain
8	chr12:63187800-63205200	Weak transcription	K562	blood
9	chr12:63187800-63206400	Weak transcription	Osteobl	bone
10	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:63188000-63198800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:63188600-63197000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:63188600-63197600	Weak transcription	Liver	Liver
16	chr12:63190000-63196400	Strong transcription	HepG2	liver
17	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:63193000-63196200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:63193000-63201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:63193400-63206800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:63193600-63196400	Strong transcription	Fetal Intestine Small	intestine
22	chr12:63194000-63198800	Weak transcription	GM12878-XiMat	blood
23	chr12:63194800-63197200	Weak transcription	A549	lung
24	chr12:63195000-63198000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:63195400-63206000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:63195600-63196400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:63195600-63196400	Enhancers	HMEC	breast
28	chr12:63195600-63197400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:63195800-63196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:63195800-63198800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:63196000-63197000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:63196000-63197800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:63196000-63198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:63196000-63198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:63196000-63200000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:63196000-63201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:63196000-63206600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:63196000-63206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:63196000-63206800	Weak transcription	Fetal Intestine Large	intestine
43	chr12:63196000-63206800	Weak transcription	Right Ventricle	heart
44	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:63196000-63225800	Weak transcription	Gastric	stomach

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