Variant report

Variant	rs186849536
Chromosome Location	chr1:150520980-150520981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:150520825-150521775	K562	blood:	n/a	n/a
2	RCOR1	chr1:150520942-150522069	K562	blood:	n/a	n/a
3	RCOR1	chr1:150520919-150521973	IMR90	lung:	n/a	n/a
4	POLR2A	chr1:150520907-150522658	MCF10A-Er-Src	breast:	n/a	n/a
5	TBP	chr1:150520967-150522150	K562	blood:	n/a	n/a
6	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
7	MAX	chr1:150520899-150521917	MCF-7	breast:	n/a	n/a
8	MAX	chr1:150520900-150521699	SK-N-SH	brain:	n/a	n/a
9	MAX	chr1:150520903-150522868	K562	blood:	n/a	chr1:150522785-150522795
10	MAX	chr1:150520957-150521819	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
12	POLR2A	chr1:150520969-150522210	PFSK-1	brain:	n/a	n/a
13	EP300	chr1:150520978-150521126	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr1:150520962-150522391	K562	blood:	n/a	n/a
15	TBP	chr1:150520974-150521366	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:150520958-150521799	Hela-S3	cervix:	n/a	n/a
17	TCF12	chr1:150520849-150521790	A549	lung:	n/a	n/a
18	NR2F2	chr1:150520774-150521771	K562	blood:	n/a	n/a
19	HEY1	chr1:150520954-150522395	K562	blood:	n/a	chr1:150521994-150522009
20	POLR2A	chr1:150520920-150525557	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr1:150520974-150523359	K562	blood:	n/a	n/a
22	ZNF143	chr1:150520947-150521275	K562	blood:	n/a	n/a
23	TEAD4	chr1:150520898-150521786	K562	blood:	n/a	n/a
24	MAX	chr1:150520971-150521991	A549	lung:	n/a	n/a
25	POLR2A	chr1:150520821-150521793	K562	blood:	n/a	n/a
26	HDAC2	chr1:150520907-150521790	MCF-7	breast:	n/a	n/a
27	MXI1	chr1:150520895-150521865	IMR90	lung:	n/a	n/a
28	RCOR1	chr1:150520922-150521781	Hela-S3	cervix:	n/a	n/a
29	MAZ	chr1:150520899-150523814	IMR90	lung:	n/a	chr1:150522785-150522795
30	MAX	chr1:150520891-150522173	A549	lung:	n/a	n/a
31	POLR2A	chr1:150520918-150521798	PANC-1	pancreas:	n/a	n/a
32	MYC	chr1:150520948-150522288	K562	blood:	n/a	n/a
33	POLR2A	chr1:150520973-150527524	K562	blood:	n/a	n/a
34	RCOR1	chr1:150520958-150521449	K562	blood:	n/a	n/a
35	POLR2A	chr1:150520899-150522758	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150518651..150520158-chr1:150520276..150521871,2	MCF-7	breast:
2	chr1:150518754..150521132-chr1:150522250..150524935,2	MCF-7	breast:
3	chr1:150520959..150521729-chr3:64009113..64009945,2	MCF-7	breast:
4	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
5	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
6	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
7	chr1:150479220..150481120-chr1:150520088..150521820,2	K562	blood:
8	chr1:150520253..150522845-chr1:150539005..150541527,2	MCF-7	breast:
9	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
10	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTSL4	TF binding region
ENSG00000225996	TF binding region
MIR4257	TF binding region
ENSG00000143374	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000264508	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases
4	esv3437004	chr1:150520753-150523301	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:150505800-150521000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:150511200-150521000	Weak transcription	A549	lung
4	chr1:150511400-150521000	Weak transcription	NHDF-Ad	bronchial
5	chr1:150511600-150521200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:150515200-150521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:150516400-150521000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:150516400-150521000	Weak transcription	Right Atrium	heart
9	chr1:150516600-150521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:150516600-150521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:150516600-150521000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:150516600-150521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:150516600-150521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:150517000-150521000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:150517000-150521000	Weak transcription	Adipose Nuclei	Adipose
16	chr1:150517000-150521000	Weak transcription	Liver	Liver
17	chr1:150517000-150521000	Weak transcription	HSMM	muscle
18	chr1:150517000-150521000	Weak transcription	HSMMtube	muscle
19	chr1:150518000-150521000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:150518200-150521000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:150518400-150521000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:150518400-150521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:150518400-150521000	Weak transcription	Fetal Heart	heart
24	chr1:150519200-150521000	Weak transcription	Placenta	Placenta
25	chr1:150520400-150521000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:150520600-150521000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:150520600-150521000	Weak transcription	Gastric	stomach
28	chr1:150520800-150521000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:150520800-150521000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:150520800-150521000	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:150520800-150521000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:150520800-150521000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:150520800-150521000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:150520800-150521000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:150520800-150521000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:150520800-150521000	Enhancers	Colonic Mucosa	Colon
37	chr1:150520800-150521000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:150520800-150521000	Enhancers	Fetal Muscle Leg	muscle
39	chr1:150520800-150521000	Enhancers	Pancreas	Pancrea
40	chr1:150520800-150521000	Active TSS	Right Ventricle	heart
41	chr1:150520800-150521000	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:150520800-150521000	Active TSS	HepG2	liver
43	chr1:150520800-150521000	Enhancers	HMEC	breast
44	chr1:150520800-150521000	Enhancers	NH-A	brain
45	chr1:150520800-150521000	Enhancers	NHEK	skin
46	chr1:150520800-150521600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr1:150520800-150522200	Active TSS	Hela-S3	cervix
48	chr1:150520800-150522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:150520800-150523000	Active TSS	K562	blood

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