Variant report

Variant	rs17226088
Chromosome Location	chr14:64804157-64804158
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:64803859-64805203	Hela-S3	cervix:	n/a	chr14:64804003-64804014
2	FOS	chr14:64804019-64804186	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr14:64804059-64806486	SK-N-SH	brain:	n/a	n/a
4	HCFC1	chr14:64803416-64806557	Hela-S3	cervix:	n/a	n/a
5	MYC	chr14:64804089-64804835	MCF10A-Er-Src	breast:	n/a	n/a
6	KAT2A	chr14:64804073-64804250	GM12878	blood:	n/a	n/a
7	ZNF263	chr14:64803391-64804224	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64803480..64807605-chr14:64853546..64855883,4	K562	blood:
2	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
3	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
4	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
5	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
6	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
7	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
8	chr14:64760837..64762667-chr14:64803979..64805522,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESR2-1	chr14:64804119-64804247	ENSG00000214770.2

No data

Variant related genes	Relation type
ENSG00000214770	TF binding region
ENSG00000140009	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000259116	Chromatin interaction

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

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

rs_ID	r²[population]
rs10144225	1.00[CHB][hapmap]
rs10459452	0.85[CHB][hapmap]
rs1109056	0.85[CHB][hapmap]
rs17101732	0.85[CHB][hapmap]
rs2274705	1.00[CHB][hapmap]
rs7157428	1.00[CHB][hapmap]
rs8003490	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs8017441	1.00[CHB][hapmap]
rs8018687	0.86[CHB][hapmap]
rs8020646	0.86[CHB][hapmap]
rs944045	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64800400-64804200	Weak transcription	NH-A	brain
2	chr14:64802200-64804600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:64803200-64804400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:64803200-64804400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr14:64803200-64804400	Flanking Active TSS	A549	lung
6	chr14:64803200-64804400	Flanking Active TSS	Dnd41	blood
7	chr14:64803200-64805800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:64803200-64806200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:64803400-64804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:64803400-64804400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:64803400-64804400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr14:64803400-64805800	Active TSS	GM12878-XiMat	blood
13	chr14:64803600-64804200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:64803600-64804200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:64803600-64804200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:64803600-64804200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:64803600-64804200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr14:64803600-64804400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:64803800-64804200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:64803800-64804200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:64803800-64804200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:64803800-64804200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:64803800-64804200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:64803800-64804200	Enhancers	Duodenum Mucosa	Duodenum
25	chr14:64803800-64804200	Enhancers	Fetal Intestine Large	intestine
26	chr14:64803800-64804200	Enhancers	Fetal Lung	lung
27	chr14:64803800-64804200	Enhancers	Thymus	Thymus
28	chr14:64803800-64804200	Enhancers	HepG2	liver
29	chr14:64803800-64804200	Flanking Active TSS	HMEC	breast
30	chr14:64803800-64804200	Enhancers	HUVEC	blood vessel
31	chr14:64803800-64804200	Flanking Active TSS	K562	blood
32	chr14:64803800-64804200	Enhancers	NHDF-Ad	bronchial
33	chr14:64803800-64804400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:64803800-64804400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr14:64803800-64804400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr14:64803800-64804400	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:64803800-64804400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr14:64803800-64804400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr14:64803800-64804400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:64803800-64804400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:64803800-64804400	Enhancers	Colon Smooth Muscle	Colon
42	chr14:64803800-64804400	Enhancers	Fetal Heart	heart
43	chr14:64803800-64804400	Enhancers	Fetal Intestine Small	intestine
44	chr14:64803800-64804400	Flanking Active TSS	Hela-S3	cervix
45	chr14:64803800-64804400	Flanking Active TSS	NHEK	skin
46	chr14:64803800-64804400	Enhancers	Osteobl	bone
47	chr14:64803800-64804600	Enhancers	Primary B cells from peripheral blood	blood
48	chr14:64803800-64804600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:64803800-64804600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr14:64803800-64804600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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