Variant report

Variant	rs59651914
Chromosome Location	chr12:104222211-104222212
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104221407..104223311-chr12:104252551..104254594,2	MCF-7	breast:
2	chr12:104206123..104208804-chr12:104221926..104227695,4	K562	blood:
3	chr12:104221570..104225596-chr12:104232317..104237466,6	MCF-7	breast:
4	chr12:104221267..104222834-chr12:104227996..104230491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1057892	0.84[EUR][1000 genomes]
rs11111802	0.83[ASN][1000 genomes]
rs12422418	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12422615	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12422701	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12423476	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12423889	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12423912	0.87[EUR][1000 genomes]
rs12423994	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12424929	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12424984	0.90[EUR][1000 genomes]
rs12425283	0.87[EUR][1000 genomes]
rs12425537	1.00[AFR][1000 genomes]
rs1437505	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1550207	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550208	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034593	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034620	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17034662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17794246	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2289258	0.83[EUR][1000 genomes]
rs3812802	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55724382	0.84[EUR][1000 genomes]
rs55736751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55810720	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs55932227	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55949441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55987022	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55993375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56123042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56143748	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56147174	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56255894	0.90[EUR][1000 genomes]
rs56314567	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56403068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57173983	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59716163	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60378307	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61512578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61748068	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7295408	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7314150	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7485127	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104208200-104223200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:104208200-104227800	Weak transcription	Pancreas	Pancrea
3	chr12:104208800-104227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:104215200-104226000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:104215200-104227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:104215400-104223400	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:104216600-104227800	Weak transcription	NH-A	brain
8	chr12:104218400-104224800	Weak transcription	K562	blood
9	chr12:104218400-104233000	Weak transcription	Gastric	stomach
10	chr12:104218400-104233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:104218800-104227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:104218800-104232800	Weak transcription	Psoas Muscle	Psoas
13	chr12:104219600-104226400	Weak transcription	Ovary	ovary
14	chr12:104220000-104232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:104220600-104222600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:104221200-104224200	Enhancers	Colon Smooth Muscle	Colon
17	chr12:104221400-104223400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:104221400-104223600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:104221400-104228200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:104221600-104222400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:104221600-104222400	Enhancers	GM12878-XiMat	blood
22	chr12:104221600-104222400	Enhancers	HSMM	muscle
23	chr12:104221600-104222400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:104221600-104222400	Enhancers	NHDF-Ad	bronchial
25	chr12:104221600-104223800	Enhancers	HepG2	liver
26	chr12:104221600-104224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104221600-104224000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:104221800-104222400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:104221800-104222400	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:104221800-104222400	Enhancers	Osteobl	bone
31	chr12:104221800-104222600	Enhancers	HSMMtube	muscle
32	chr12:104221800-104222800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:104221800-104223000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:104221800-104223600	Enhancers	NHEK	skin
35	chr12:104222000-104222600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:104222000-104223200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:104222000-104223400	Enhancers	HMEC	breast
38	chr12:104222000-104224200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:104222000-104225800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:104222000-104226200	Enhancers	Primary B cells from cord blood	blood
41	chr12:104222200-104223200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:104222200-104223200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:104222200-104224800	Weak transcription	Aorta	Aorta
44	chr12:104222200-104226000	Weak transcription	Liver	Liver
45	chr12:104222200-104226200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:104222200-104226200	Weak transcription	Fetal Lung	lung
47	chr12:104222200-104226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:104222200-104226600	Weak transcription	Brain Anterior Caudate	brain
49	chr12:104222200-104227400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:104222200-104232200	Weak transcription	NHLF	lung

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