Variant report

Variant	rs11615701
Chromosome Location	chr12:104223662-104223663
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	chr12:104206123..104208804-chr12:104221926..104227695,4	K562	blood:
2	chr12:104221570..104225596-chr12:104232317..104237466,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11608250	0.83[EUR][1000 genomes]
rs11610831	0.83[EUR][1000 genomes]
rs11611059	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11616182	0.82[EUR][1000 genomes]
rs59991655	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73175815	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104208200-104227800	Weak transcription	Pancreas	Pancrea
2	chr12:104208800-104227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:104215200-104226000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:104215200-104227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:104216600-104227800	Weak transcription	NH-A	brain
6	chr12:104218400-104224800	Weak transcription	K562	blood
7	chr12:104218400-104233000	Weak transcription	Gastric	stomach
8	chr12:104218400-104233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:104218800-104227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:104218800-104232800	Weak transcription	Psoas Muscle	Psoas
11	chr12:104219600-104226400	Weak transcription	Ovary	ovary
12	chr12:104220000-104232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:104221200-104224200	Enhancers	Colon Smooth Muscle	Colon
14	chr12:104221400-104228200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:104221600-104223800	Enhancers	HepG2	liver
16	chr12:104221600-104224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:104221600-104224000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:104222000-104224200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104222000-104225800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:104222000-104226200	Enhancers	Primary B cells from cord blood	blood
21	chr12:104222200-104224800	Weak transcription	Aorta	Aorta
22	chr12:104222200-104226000	Weak transcription	Liver	Liver
23	chr12:104222200-104226200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:104222200-104226200	Weak transcription	Fetal Lung	lung
25	chr12:104222200-104226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:104222200-104226600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:104222200-104227400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:104222200-104232200	Weak transcription	NHLF	lung
29	chr12:104222400-104226400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:104222400-104226600	Weak transcription	Osteobl	bone
31	chr12:104222400-104227400	Weak transcription	HSMM	muscle
32	chr12:104222400-104228800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:104222600-104232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:104222800-104226800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:104223000-104226600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:104223200-104223800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr12:104223200-104224600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:104223200-104224800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:104223200-104226400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:104223200-104226400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:104223200-104227400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:104223200-104233000	Weak transcription	HSMMtube	muscle
43	chr12:104223400-104225800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:104223400-104226400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:104223400-104226600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:104223400-104226600	Weak transcription	HMEC	breast
47	chr12:104223600-104223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:104223600-104226000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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