Variant report

Variant	rs144743527
Chromosome Location	chr15:34394840-34394841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr15:34393616-34395473	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr15:34393712-34395344	GM12891	blood:	n/a	n/a
3	MAX	chr15:34393434-34394849	A549	lung:	n/a	n/a
4	POLR2A	chr15:34393333-34395061	IMR90	lung:	n/a	n/a
5	USF1	chr15:34393799-34394888	SK-N-SH	brain:	n/a	n/a
6	GATA1	chr15:34393819-34395039	PBDE	blood:	n/a	n/a
7	IRF1	chr15:34393898-34395180	K562	blood:	n/a	n/a
8	POLR2A	chr15:34393762-34395029	K562	blood:	n/a	n/a
9	SIN3A	chr15:34393535-34394902	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBL1XR1	chr15:34393896-34395009	GM12878	blood:	n/a	n/a
11	MXI1	chr15:34392820-34395203	SK-N-SH	brain:	n/a	chr15:34393499-34393508
12	EP300	chr15:34393951-34394965	GM12878	blood:	n/a	n/a
13	CHD1	chr15:34393825-34394947	GM12878	blood:	n/a	n/a
14	RCOR1	chr15:34393588-34394881	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:34391885..34395742-chr15:34500701..34502399,4	K562	blood:
2	chr14:35342985..35344751-chr15:34393746..34395266,2	MCF-7	breast:
3	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
4	chr15:34393027..34397233-chr15:34658612..34660877,5	K562	blood:
5	chr15:34392784..34394847-chr15:34629052..34631553,2	K562	blood:
6	chr15:34393027..34394938-chr15:34659377..34661190,2	K562	blood:
7	chr15:34394473..34397367-chr15:34405065..34407483,2	K562	blood:
8	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:
9	chr15:34392855..34396101-chr15:34515904..34518783,5	MCF-7	breast:
10	chr15:34393239..34395470-chr15:34515986..34518807,4	MCF-7	breast:
11	chr15:34394445..34396841-chr15:34644524..34647284,2	K562	blood:

No data

Variant related genes	Relation type
EMC7	TF binding region
ENSG00000258738	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000140199	Chromatin interaction

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

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	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv903986	chr15:34394273-34421951	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34392400-34395400	Active TSS	Psoas Muscle	Psoas
2	chr15:34392600-34395000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:34392600-34395000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr15:34392600-34395000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:34392600-34395200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:34392800-34395200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:34392800-34395200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:34392800-34395400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:34392800-34395600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:34393000-34395000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:34393000-34395000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:34393000-34395000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:34393000-34395000	Active TSS	Aorta	Aorta
14	chr15:34393000-34395000	Active TSS	Fetal Muscle Trunk	muscle
15	chr15:34393000-34395000	Active TSS	Ovary	ovary
16	chr15:34393000-34395000	Active TSS	Right Ventricle	heart
17	chr15:34393000-34395000	Active TSS	Stomach Mucosa	stomach
18	chr15:34393200-34395000	Active TSS	Fetal Intestine Large	intestine
19	chr15:34393200-34395000	Active TSS	NH-A	brain
20	chr15:34393200-34395200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:34393200-34395200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr15:34393200-34395200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:34393200-34395200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:34393200-34395200	Active TSS	Colonic Mucosa	Colon
25	chr15:34393200-34395400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:34393400-34395000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:34393400-34395200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr15:34393400-34395400	Active TSS	Brain Angular Gyrus	brain
29	chr15:34394000-34395000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:34394400-34395000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr15:34394400-34395000	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr15:34394400-34395200	Flanking Active TSS	Hela-S3	cervix
33	chr15:34394400-34395400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr15:34394600-34395000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr15:34394600-34395000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr15:34394600-34395000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr15:34394600-34395000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:34394600-34395000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:34394600-34395000	Enhancers	Esophagus	oesophagus
40	chr15:34394600-34395000	Flanking Active TSS	Fetal Kidney	kidney
41	chr15:34394600-34395000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr15:34394600-34395000	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr15:34394600-34395000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:34394600-34395000	Enhancers	Small Intestine	intestine
45	chr15:34394600-34395000	Active TSS	HepG2	liver
46	chr15:34394600-34395200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr15:34394600-34395200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:34394600-34395200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:34394600-34395200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr15:34394600-34395200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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