Variant report

Variant	rs11900380
Chromosome Location	chr2:178215660-178215661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr2:178214579-178215920	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000238295	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10173667	1.00[AMR][1000 genomes]
rs10186918	1.00[AMR][1000 genomes]
rs11892161	1.00[AMR][1000 genomes]
rs13413244	1.00[AMR][1000 genomes]
rs13420517	1.00[AMR][1000 genomes]
rs28552775	1.00[AMR][1000 genomes]
rs58936343	1.00[AMR][1000 genomes]
rs60692804	1.00[AMR][1000 genomes]
rs6758141	1.00[AMR][1000 genomes]
rs73976182	1.00[AMR][1000 genomes]
rs73976751	1.00[AMR][1000 genomes]
rs73979736	1.00[AMR][1000 genomes]
rs9917195	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3424311	chr2:178215518-178216046	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
3	esv3343877	chr2:178215566-178216241	Weak transcription Enhancers	TF binding region	1 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	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:178202200-178217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:178203200-178216400	Weak transcription	HSMMtube	muscle
8	chr2:178203200-178217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:178203400-178216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:178203400-178216000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:178203400-178217000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:178203400-178244400	Weak transcription	HSMM	muscle
13	chr2:178203800-178221600	Weak transcription	A549	lung
14	chr2:178210600-178218000	Enhancers	HepG2	liver
15	chr2:178211800-178217400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:178212000-178224400	Weak transcription	Fetal Heart	heart
17	chr2:178212600-178218000	Enhancers	Colon Smooth Muscle	Colon
18	chr2:178213000-178217400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:178213600-178217200	Enhancers	Esophagus	oesophagus
22	chr2:178213600-178218400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:178213800-178216600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:178213800-178217400	Weak transcription	Fetal Kidney	kidney
25	chr2:178214000-178216600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:178214200-178220400	Weak transcription	Brain Substantia Nigra	brain
27	chr2:178214400-178216400	Weak transcription	Right Atrium	heart
28	chr2:178214400-178216600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:178214400-178216600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:178214400-178219800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:178214400-178220400	Weak transcription	Brain Angular Gyrus	brain
32	chr2:178214400-178228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:178214600-178217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:178214800-178220400	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:178214800-178221400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:178215000-178218400	Enhancers	Adipose Nuclei	Adipose
37	chr2:178215200-178216600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:178215200-178217600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:178215200-178217800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:178215200-178218200	Enhancers	Fetal Stomach	stomach
41	chr2:178215400-178215800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:178215400-178216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:178215400-178216600	Weak transcription	Placenta	Placenta
44	chr2:178215400-178216800	Weak transcription	Lung	lung
45	chr2:178215400-178220200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:178215600-178215800	Weak transcription	Ovary	ovary
47	chr2:178215600-178216400	Weak transcription	Pancreas	Pancrea
48	chr2:178215600-178217400	Enhancers	NHEK	skin

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