Variant report

Variant	rs11564421
Chromosome Location	chr18:25536181-25536182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25531680..25534243-chr18:25534714..25536598,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11564422	0.85[CHB][hapmap];0.80[GIH][hapmap]
rs17445714	0.80[CEU][hapmap]
rs17445742	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17468095	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9945664	0.85[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs9945946	0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs9963326	0.85[CHB][hapmap]

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	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2760473	chr18:25386088-25571466	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25512200-25540000	Weak transcription	Aorta	Aorta
2	chr18:25522800-25536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:25523000-25540200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr18:25528400-25539600	Weak transcription	Brain Germinal Matrix	brain
5	chr18:25528600-25542800	Weak transcription	Fetal Heart	heart
6	chr18:25528600-25547600	Weak transcription	HepG2	liver
7	chr18:25528800-25543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:25529200-25540200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr18:25529200-25540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr18:25529200-25543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:25530600-25539800	Weak transcription	A549	lung
12	chr18:25530600-25540000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr18:25530800-25537600	Weak transcription	Fetal Brain Female	brain
14	chr18:25530800-25555400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:25531000-25538600	Weak transcription	Ovary	ovary
16	chr18:25531000-25539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:25531000-25540000	Weak transcription	Brain Angular Gyrus	brain
18	chr18:25531000-25544800	Weak transcription	HUVEC	blood vessel
19	chr18:25531000-25548000	Weak transcription	Right Ventricle	heart
20	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
21	chr18:25532400-25536600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:25532400-25539600	Weak transcription	Dnd41	blood
23	chr18:25532400-25541400	Weak transcription	Brain Substantia Nigra	brain
24	chr18:25532600-25545000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr18:25533400-25536600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:25533600-25543200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr18:25534400-25537400	Weak transcription	Left Ventricle	heart
28	chr18:25534600-25540200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:25534600-25540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:25534600-25546800	Weak transcription	Fetal Lung	lung
31	chr18:25534800-25537600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr18:25534800-25540000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:25534800-25540000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:25534800-25542600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:25535000-25536400	Weak transcription	Osteobl	bone
36	chr18:25535000-25536600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:25535000-25537400	Weak transcription	HSMM	muscle
38	chr18:25535000-25540000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr18:25535000-25543800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:25535000-25544400	Strong transcription	NH-A	brain
41	chr18:25535200-25543600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:25535400-25537000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
43	chr18:25535800-25536800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:25535800-25536800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr18:25535800-25545800	Strong transcription	Liver	Liver
46	chr18:25536000-25536600	Enhancers	HSMMtube	muscle
47	chr18:25536000-25537000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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