Variant report

Variant	rs10506448
Chromosome Location	chr12:63209623-63209624
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	chr12:63206234..63209842-chr12:63325867..63329850,5	MCF-7	breast:
2	chr12:63209177..63211572-chr12:63327564..63329364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10506449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506450	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877917	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877918	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877919	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877920	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174650	1.00[GIH][hapmap]
rs11174655	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174656	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11174657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174663	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174664	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174665	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174677	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174678	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11174681	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174682	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174684	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174685	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11495591	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615499	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12367672	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12369052	0.90[ASN][1000 genomes]
rs12371724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17120377	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17735307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1908185	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2663963	1.00[JPT][hapmap]
rs337516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3912983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4378444	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132872	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73130065	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73130066	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73130069	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73130081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73130084	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73130086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130088	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73130089	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73135674	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135684	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:63196000-63225800	Weak transcription	Gastric	stomach
9	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:63205800-63211400	Weak transcription	K562	blood
11	chr12:63207200-63210600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:63207200-63210600	Weak transcription	Fetal Kidney	kidney
13	chr12:63207200-63210600	Weak transcription	Osteobl	bone
14	chr12:63207200-63211000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:63207200-63211200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:63207200-63211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:63207200-63211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:63207200-63211400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:63207200-63211400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:63207200-63211400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:63207200-63211400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:63207200-63211400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:63207200-63211400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:63207200-63211400	Weak transcription	Aorta	Aorta
25	chr12:63207200-63211400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:63207200-63211400	Weak transcription	Ovary	ovary
27	chr12:63207200-63211400	Weak transcription	Psoas Muscle	Psoas
28	chr12:63207200-63211600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:63207200-63211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:63207200-63211600	Weak transcription	Thymus	Thymus
31	chr12:63207200-63221000	Weak transcription	HepG2	liver
32	chr12:63207200-63228600	Weak transcription	A549	lung
33	chr12:63207200-63231200	Weak transcription	Pancreas	Pancrea
34	chr12:63207400-63211200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:63207400-63219400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:63207600-63210200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:63207600-63210200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:63207600-63211200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:63207600-63211400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:63207600-63211400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:63207600-63211400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:63207600-63211400	Weak transcription	Brain Substantia Nigra	brain
43	chr12:63208200-63210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:63208400-63211400	Weak transcription	Dnd41	blood
45	chr12:63209000-63210000	Weak transcription	Primary hematopoietic stem cells	blood

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