Variant report

Variant	rs8022222
Chromosome Location	chr14:64582719-64582720
allele	A/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	POLR2A	chr14:64578683-64586884	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:64578631-64587093	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64517201..64519341-chr14:64582124..64585042,2	MCF-7	breast:

Variant related genes	Relation type
SYNE2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10047814	0.84[EUR][1000 genomes]
rs10136099	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10136662	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10137370	0.85[EUR][1000 genomes]
rs10137426	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10137665	0.83[EUR][1000 genomes]
rs10142318	0.86[EUR][1000 genomes]
rs10142480	0.84[EUR][1000 genomes]
rs10151446	0.84[ASN][1000 genomes]
rs11849394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12587924	0.80[ASN][1000 genomes]
rs12590062	0.80[ASN][1000 genomes]
rs2184288	0.85[EUR][1000 genomes]
rs45472593	0.87[EUR][1000 genomes]
rs7140578	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7158393	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7159213	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7160091	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7161361	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8003196	0.85[EUR][1000 genomes]
rs8021831	0.86[EUR][1000 genomes]
rs8023139	0.85[EUR][1000 genomes]
rs9323446	0.86[EUR][1000 genomes];0.80[ASN][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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
3	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:64548400-64590800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:64565800-64588600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:64567800-64584800	Weak transcription	Fetal Heart	heart
10	chr14:64568200-64582800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:64568800-64590000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:64569000-64587800	Weak transcription	Small Intestine	intestine
13	chr14:64570800-64587600	Weak transcription	Primary B cells from cord blood	blood
14	chr14:64572800-64586000	Weak transcription	Fetal Lung	lung
15	chr14:64574600-64584200	Weak transcription	HUVEC	blood vessel
16	chr14:64574600-64591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:64574800-64586000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:64574800-64586200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:64575000-64584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:64575800-64585600	Weak transcription	Ovary	ovary
21	chr14:64577200-64582800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:64577800-64583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:64577800-64583800	Weak transcription	HMEC	breast
24	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:64579600-64585000	Strong transcription	Fetal Stomach	stomach
28	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:64579800-64582800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:64579800-64583800	Strong transcription	GM12878-XiMat	blood
31	chr14:64580200-64586200	Weak transcription	Aorta	Aorta
32	chr14:64580400-64588400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:64580600-64585600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:64580600-64585800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:64580600-64586400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:64580600-64589800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:64580600-64600200	Weak transcription	Stomach Mucosa	stomach
38	chr14:64581000-64592200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:64581200-64582800	Strong transcription	Colonic Mucosa	Colon
40	chr14:64581200-64584200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:64581200-64584400	Weak transcription	HSMM	muscle
42	chr14:64581200-64587800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:64581200-64588800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:64581200-64593200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:64581400-64582800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr14:64581400-64584400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:64581400-64584400	Weak transcription	HSMMtube	muscle
48	chr14:64581400-64588400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:64581400-64592600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:64581400-64613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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