Variant report

Variant	rs62087495
Chromosome Location	chr18:9398708-9398709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9393548..9395841-chr18:9396684..9399360,2	K562	blood:
2	chr18:9396886..9398786-chr18:9399883..9402900,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61067716	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62087470	0.80[ASN][1000 genomes]
rs62087475	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62087477	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62087497	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72941944	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
3	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
5	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
6	chr18:9381200-9399400	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:9381400-9404600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:9387200-9403600	Weak transcription	K562	blood
9	chr18:9388200-9402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:9388600-9404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:9388800-9402600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr18:9389000-9403800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:9389400-9405400	Weak transcription	Lung	lung
15	chr18:9390400-9404400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:9390800-9404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:9391000-9403800	Weak transcription	Gastric	stomach
18	chr18:9391400-9404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:9391600-9400200	Weak transcription	NHLF	lung
20	chr18:9392000-9400000	Weak transcription	HUVEC	blood vessel
21	chr18:9392000-9401200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:9392000-9403800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr18:9392200-9401000	Weak transcription	Brain Substantia Nigra	brain
24	chr18:9392200-9401200	Weak transcription	Fetal Intestine Large	intestine
25	chr18:9392200-9403400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:9392200-9404400	Weak transcription	Adipose Nuclei	Adipose
27	chr18:9392400-9400400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9392400-9404600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:9392400-9404600	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:9392600-9398800	Weak transcription	Fetal Heart	heart
31	chr18:9392600-9400200	Weak transcription	Brain Angular Gyrus	brain
32	chr18:9392800-9401200	Weak transcription	Dnd41	blood
33	chr18:9392800-9402600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:9393000-9399800	Weak transcription	Fetal Kidney	kidney
35	chr18:9393000-9401800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
38	chr18:9393600-9404000	Weak transcription	Primary B cells from cord blood	blood
39	chr18:9393800-9399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:9393800-9399600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:9394600-9402200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:9394800-9400800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:9394800-9402400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:9394800-9402800	Weak transcription	Fetal Brain Female	brain
45	chr18:9395000-9400400	Weak transcription	Pancreas	Pancrea
46	chr18:9395000-9405600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr18:9395200-9403600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr18:9395400-9404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:9395400-9404400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr18:9395600-9399000	Strong transcription	Fetal Stomach	stomach

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