Variant report

Variant	rs2289664
Chromosome Location	chr18:25532304-25532305
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	RAD21	chr18:25532173-25532397	H1-hESC	embryonic stem cell:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000227279	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11083240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11564414	1.00[CHD][hapmap]
rs17445496	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17446078	1.00[AFR][1000 genomes]
rs17467983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17468047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17468075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17468818	1.00[AFR][1000 genomes]
rs17469343	1.00[AFR][1000 genomes]
rs62101448	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9964071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[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	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25512200-25540000	Weak transcription	Aorta	Aorta
2	chr18:25521400-25535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:25522800-25536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:25523000-25533400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr18:25523000-25540200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:25528400-25539600	Weak transcription	Brain Germinal Matrix	brain
7	chr18:25528600-25534600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:25528600-25542800	Weak transcription	Fetal Heart	heart
9	chr18:25528600-25547600	Weak transcription	HepG2	liver
10	chr18:25528800-25533000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:25528800-25543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:25529200-25540200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr18:25529200-25540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:25529200-25543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:25529400-25533800	Weak transcription	HSMMtube	muscle
16	chr18:25529800-25532400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:25530200-25532600	Strong transcription	HSMM	muscle
18	chr18:25530200-25535200	Strong transcription	Liver	Liver
19	chr18:25530400-25532400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:25530400-25532400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:25530400-25534000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:25530600-25534200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:25530600-25539800	Weak transcription	A549	lung
24	chr18:25530600-25540000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:25530800-25532800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:25530800-25537600	Weak transcription	Fetal Brain Female	brain
27	chr18:25530800-25555400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:25531000-25534200	Weak transcription	Left Ventricle	heart
29	chr18:25531000-25538600	Weak transcription	Ovary	ovary
30	chr18:25531000-25539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:25531000-25540000	Weak transcription	Brain Angular Gyrus	brain
32	chr18:25531000-25544800	Weak transcription	HUVEC	blood vessel
33	chr18:25531000-25548000	Weak transcription	Right Ventricle	heart
34	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
35	chr18:25531400-25532400	Strong transcription	Dnd41	blood
36	chr18:25531600-25535400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:25532000-25532400	Enhancers	Brain Substantia Nigra	brain
38	chr18:25532000-25532400	Strong transcription	Osteobl	bone
39	chr18:25532200-25532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:25532200-25534000	Weak transcription	NH-A	brain
41	chr18:25532200-25534400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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