Variant report

Variant	rs45467291
Chromosome Location	chr14:65005616-65005617
allele	C/T
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:7)
LncRNA
region (count:0)
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	chr14:65005431-65005756	A549	lung:	n/a	n/a
2	TCF12	chr14:65005596-65008103	A549	lung:	n/a	chr14:65006321-65006331 chr14:65007152-65007159
3	CEBPB	chr14:65005436-65005751	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:65005360-65005853	MCF-7	breast:	n/a	n/a
5	CEBPB	chr14:65005448-65005772	IMR90	lung:	n/a	n/a
6	CEBPB	chr14:65005461-65005981	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr14:65005451-65005759	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:65005458..65007740-chr14:65223841..65226148,2	MCF-7	breast:
2	chr14:65005088..65007392-chr14:65188450..65190752,3	MCF-7	breast:
3	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:64988143..64990019-chr14:65005055..65006993,2	MCF-7	breast:
5	chr14:65005138..65007971-chr14:65016762..65019337,2	MCF-7	breast:
6	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
7	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:

No data

Variant related genes	Relation type
HSPA2	TF binding region
ENSG00000259160	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000165807	Chromatin interaction
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs45456191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45486597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45490995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45598135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3390097	chr14:65002586-65009255	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64974800-65006000	Weak transcription	Ovary	ovary
2	chr14:64976000-65006000	Weak transcription	Brain Germinal Matrix	brain
3	chr14:64978200-65006000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:64979200-65005800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:64982000-65005800	Weak transcription	Fetal Heart	heart
6	chr14:64989200-65006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:64989800-65005800	Weak transcription	Right Ventricle	heart
8	chr14:64990200-65005800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:64990200-65005800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:64990200-65005800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:64990200-65006000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:64990200-65006000	Weak transcription	Aorta	Aorta
13	chr14:64990200-65006000	Weak transcription	Fetal Muscle Leg	muscle
14	chr14:64990200-65006000	Weak transcription	Left Ventricle	heart
15	chr14:64990200-65006200	Weak transcription	Small Intestine	intestine
16	chr14:64990400-65005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:64990400-65005800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:64990400-65005800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:64990400-65005800	Weak transcription	Fetal Kidney	kidney
20	chr14:64990400-65005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:64990400-65005800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:64990400-65006000	Weak transcription	Fetal Intestine Large	intestine
23	chr14:64990600-65005800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:64990800-65005800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:64992000-65005800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:64992200-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:64993400-65005800	Weak transcription	NH-A	brain
28	chr14:64993400-65005800	Weak transcription	NHEK	skin
29	chr14:64993600-65006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:64993800-65005800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:64993800-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:64993800-65005800	Weak transcription	Fetal Intestine Small	intestine
33	chr14:64993800-65005800	Weak transcription	GM12878-XiMat	blood
34	chr14:64993800-65006000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:64993800-65006000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:64996400-65005800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:64996400-65006000	Weak transcription	Fetal Lung	lung
38	chr14:64996400-65006200	Weak transcription	HSMM	muscle
39	chr14:64996600-65006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:65002600-65005800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:65003800-65005800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:65003800-65005800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:65003800-65005800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:65003800-65005800	Weak transcription	Hela-S3	cervix
45	chr14:65003800-65005800	Weak transcription	NHDF-Ad	bronchial
46	chr14:65003800-65005800	Weak transcription	Osteobl	bone
47	chr14:65003800-65006200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:65003800-65006600	Weak transcription	HSMMtube	muscle
49	chr14:65004000-65005800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:65004000-65006000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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