Variant report

Variant	rs970866
Chromosome Location	chr18:29261918-29261919
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	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1449081	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1449084	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1615331	0.89[AMR][1000 genomes]
rs1791182	0.83[AMR][1000 genomes]
rs1791204	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72639474	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29262800	Weak transcription	HepG2	liver
2	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:29257800-29262400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr18:29257800-29262600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
7	chr18:29258200-29262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:29258200-29262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr18:29258200-29263000	Enhancers	Primary hematopoietic stem cells	blood
10	chr18:29258200-29263200	Weak transcription	Fetal Thymus	thymus
11	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
13	chr18:29258400-29262200	Enhancers	Fetal Intestine Large	intestine
14	chr18:29258400-29262200	Enhancers	Fetal Intestine Small	intestine
15	chr18:29258400-29263200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:29258800-29263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:29259000-29263000	Weak transcription	Psoas Muscle	Psoas
18	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
19	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:29259800-29263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:29259800-29263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr18:29259800-29263800	Weak transcription	NHDF-Ad	bronchial
26	chr18:29260000-29262400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr18:29260000-29263800	Weak transcription	Osteobl	bone
28	chr18:29260200-29263600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:29260200-29263800	Weak transcription	Adipose Nuclei	Adipose
30	chr18:29260400-29263000	Enhancers	Dnd41	blood
31	chr18:29260400-29263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:29260400-29263400	Weak transcription	NH-A	brain
33	chr18:29260400-29263800	Weak transcription	Liver	Liver
34	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr18:29260600-29262000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:29260600-29262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:29260600-29262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:29260600-29263000	Weak transcription	Fetal Brain Female	brain
39	chr18:29260600-29263200	Weak transcription	Fetal Heart	heart
40	chr18:29260600-29263600	Weak transcription	Right Atrium	heart
41	chr18:29260600-29263800	Weak transcription	Colonic Mucosa	Colon
42	chr18:29260600-29264200	Weak transcription	Left Ventricle	heart
43	chr18:29260600-29264200	Weak transcription	Lung	lung
44	chr18:29260600-29264200	Weak transcription	Pancreas	Pancrea
45	chr18:29260800-29263200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr18:29260800-29263600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr18:29260800-29264000	Weak transcription	Right Ventricle	heart
48	chr18:29261000-29262200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr18:29261000-29262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:29261000-29263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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