Variant report

Variant	rs543467947
Chromosome Location	chr15:40616919-40616920
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40616240-40616931	K562	blood:	n/a	n/a
2	CTBP2	chr15:40616226-40616999	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr15:40616762-40616953	K562	blood:	n/a	n/a
4	ZBTB7A	chr15:40616257-40617061	ECC-1	luminal epithelium:	n/a	chr15:40616443-40616454
5	CCNT2	chr15:40615482-40616962	K562	blood:	n/a	chr15:40615823-40615832 chr15:40616915-40616924
6	MAZ	chr15:40614373-40617806	IMR90	lung:	n/a	chr15:40614503-40614513 chr15:40617461-40617470
7	ZBTB7A	chr15:40616235-40617096	K562	blood:	n/a	chr15:40616443-40616454 chr15:40616246-40616254
8	MXI1	chr15:40615137-40617187	SK-N-SH	brain:	n/a	n/a
9	SIN3A	chr15:40614717-40617191	H1-hESC	embryonic stem cell:	n/a	chr15:40615806-40615817 chr15:40615521-40615532
10	ELF1	chr15:40616094-40617034	GM12878	blood:	n/a	chr15:40616694-40616703
11	HMGN3	chr15:40615128-40616989	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40615499..40617257-chr15:40732436..40735160,2	K562	blood:
2	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
3	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
4	chr15:40616209..40618065-chr15:40641977..40644316,2	MCF-7	breast:
5	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
6	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
7	chr15:40615118..40617051-chr15:40729542..40732021,2	K562	blood:
8	chr15:40616336..40620318-chr15:40620739..40624439,7	MCF-7	breast:
9	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
10	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
11	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
12	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
13	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHGR1-1	chr15:40616681-40618914	NONHSAT041825
2	lnc-PHGR1-1	chr15:40616696-40617689	NONHSAT041826

No data

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000233041	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000230778	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000252714	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3378883	chr15:40614885-40617433	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3428901	chr15:40615210-40617508	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3438791	chr15:40615285-40617833	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40613400-40617000	Enhancers	Fetal Brain Male	brain
2	chr15:40614800-40617000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40614800-40617200	Active TSS	Gastric	stomach
4	chr15:40614800-40618200	Active TSS	Colon Smooth Muscle	Colon
5	chr15:40614800-40618400	Active TSS	Aorta	Aorta
6	chr15:40615000-40617000	Active TSS	Brain Anterior Caudate	brain
7	chr15:40615000-40617000	Active TSS	Brain Cingulate Gyrus	brain
8	chr15:40615000-40617200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:40615200-40617000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:40615200-40617000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:40615200-40617200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr15:40615200-40617200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:40615200-40617800	Active TSS	Right Atrium	heart
14	chr15:40615400-40617000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:40615400-40617000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:40615400-40617000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr15:40615400-40617000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr15:40615400-40617000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:40615400-40617000	Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr15:40615400-40617000	Active TSS	Primary T cells from cord blood	blood
22	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:40615400-40617000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr15:40615400-40617000	Active TSS	Brain Hippocampus Middle	brain
25	chr15:40615400-40617000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:40615400-40617000	Active TSS	Brain Substantia Nigra	brain
27	chr15:40615400-40617000	Active TSS	Fetal Brain Female	brain
28	chr15:40615400-40617000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr15:40615400-40617000	Active TSS	Rectal Smooth Muscle	rectum
30	chr15:40615400-40617000	Active TSS	NH-A	brain
31	chr15:40615400-40617200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:40615400-40617200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:40615400-40617200	Active TSS	Esophagus	oesophagus
34	chr15:40615400-40617200	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr15:40615400-40617600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:40615400-40617600	Active TSS	Left Ventricle	heart
37	chr15:40615400-40618000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:40615400-40618400	Active TSS	Right Ventricle	heart
39	chr15:40615600-40617000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr15:40615600-40617000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:40615600-40617000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:40615600-40617000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr15:40615600-40617000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:40615600-40617000	Active TSS	Duodenum Mucosa	Duodenum
45	chr15:40615600-40617000	Active TSS	Stomach Smooth Muscle	stomach
46	chr15:40615600-40617000	Active TSS	Hela-S3	cervix
47	chr15:40615600-40617000	Active TSS	K562	blood
48	chr15:40615600-40617000	Active TSS	NHEK	skin
49	chr15:40615600-40617000	Active TSS	NHLF	lung
50	chr15:40615600-40617200	Active TSS	Liver	Liver

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