Variant report

Variant	rs12416875
Chromosome Location	chr11:10346878-10346879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10324085..10326015-chr11:10346392..10348165,2	MCF-7	breast:
2	chr11:9779620..9781538-chr11:10344739..10347064,2	K562	blood:

Variant related genes	Relation type
ENSG00000246273	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000254554	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11042731	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11599958	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11603561	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12418514	0.92[EUR][1000 genomes]
rs12420640	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2044782	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2167169	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4345958	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55923001	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61889838	0.81[EUR][1000 genomes]
rs61891765	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7104093	0.92[AMR][1000 genomes];0.97[EUR][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10339600-10348800	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:10340200-10347400	Weak transcription	Pancreas	Pancrea
3	chr11:10340400-10350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:10340800-10348400	Enhancers	Fetal Stomach	stomach
5	chr11:10341200-10348600	Enhancers	Rectal Smooth Muscle	rectum
6	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
7	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
8	chr11:10343400-10347800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:10343800-10350200	Enhancers	NHLF	lung
11	chr11:10344000-10347200	Enhancers	Fetal Intestine Small	intestine
12	chr11:10344000-10347600	Enhancers	Fetal Lung	lung
13	chr11:10344000-10349600	Enhancers	HUVEC	blood vessel
14	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:10344000-10353200	Enhancers	NH-A	brain
16	chr11:10344000-10353400	Enhancers	Osteobl	bone
17	chr11:10344400-10348400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:10344400-10349000	Enhancers	Aorta	Aorta
19	chr11:10344400-10351600	Enhancers	Ovary	ovary
20	chr11:10344600-10347000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:10344600-10347200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:10344600-10347200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:10344600-10347400	Enhancers	Liver	Liver
24	chr11:10344600-10347400	Weak transcription	Right Ventricle	heart
25	chr11:10344600-10347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:10344600-10347800	Weak transcription	Brain Anterior Caudate	brain
27	chr11:10344600-10347800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:10344600-10348000	Weak transcription	Psoas Muscle	Psoas
29	chr11:10344600-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:10344600-10350000	Weak transcription	HMEC	breast
31	chr11:10344600-10350200	Weak transcription	Brain Substantia Nigra	brain
32	chr11:10344600-10351000	Enhancers	Colon Smooth Muscle	Colon
33	chr11:10344600-10353200	Enhancers	Hela-S3	cervix
34	chr11:10344600-10353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:10344800-10347000	Enhancers	A549	lung
36	chr11:10344800-10347400	Enhancers	HepG2	liver
37	chr11:10344800-10347800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:10344800-10347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:10344800-10348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:10344800-10348000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:10344800-10349800	Weak transcription	Fetal Heart	heart
42	chr11:10344800-10350000	Weak transcription	NHEK	skin
43	chr11:10345000-10347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:10345000-10347600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:10345000-10347800	Weak transcription	Colonic Mucosa	Colon
46	chr11:10345000-10348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:10345000-10348400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:10345200-10347400	Weak transcription	Left Ventricle	heart
49	chr11:10345200-10348000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:10345200-10350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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