Variant report

Variant	esv1298646
Chromosome Location	chr9:140506034-140506038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr9:140506032-140508286	A549	lung:	n/a	n/a
2	BCL3	chr9:140505934-140508793	A549	lung:	n/a	n/a
3	ELF1	chr9:140505939-140507484	MCF-7	breast:	n/a	n/a
4	EP300	chr9:140505323-140508163	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr9:140505978-140507161	ECC-1	luminal epithelium:	n/a	n/a
6	FOSL1	chr9:140505945-140507297	HCT-116	colon:	n/a	chr9:140506403-140506414
7	FOXM1	chr9:140505968-140507276	ECC-1	luminal epithelium:	n/a	n/a
8	FOXM1	chr9:140506030-140507207	ECC-1	luminal epithelium:	n/a	n/a
9	GABPA	chr9:140505945-140507324	MCF-7	breast:	n/a	n/a
10	HDAC2	chr9:140506038-140507285	MCF-7	breast:	n/a	n/a
11	JUND	chr9:140505815-140508555	MCF-7	breast:	n/a	chr9:140506403-140506414
12	MAX	chr9:140505387-140507534	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr9:140505888-140507597	MCF-7	breast:	n/a	n/a
14	MAX	chr9:140505803-140508107	MCF-7	breast:	n/a	n/a
15	MAX	chr9:140505415-140507447	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr9:140505823-140507316	A549	lung:	n/a	n/a
17	MAX	chr9:140505988-140507115	A549	lung:	n/a	n/a
18	MAX	chr9:140506033-140506573	K562	blood:	n/a	n/a
19	MYC	chr9:140506036-140507094	Hela-S3	cervix:	n/a	n/a
20	MYC	chr9:140505944-140507085	MCF-7	breast:	n/a	n/a
21	NFIC	chr9:140505363-140507656	ECC-1	luminal epithelium:	n/a	n/a
22	NFIC	chr9:140505361-140507417	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr9:140505948-140510656	HL-60	blood:	n/a	n/a
24	POLR2A	chr9:140505886-140509055	MCF-7	breast:	n/a	n/a
25	POLR2A	chr9:140505993-140513476	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr9:140505964-140510573	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr9:140506005-140509069	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:140505892-140509243	U87	brain:	n/a	n/a
29	POLR2A	chr9:140505499-140510679	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr9:140506024-140507123	GM12878	blood:	n/a	n/a
31	POLR2A	chr9:140505981-140508126	HCT-116	colon:	n/a	n/a
32	POLR2A	chr9:140505860-140510540	A549	lung:	n/a	n/a
33	POLR2A	chr9:140505503-140509603	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr9:140505849-140510618	A549	lung:	n/a	n/a
35	POLR2A	chr9:140505872-140506329	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr9:140506019-140510463	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr9:140505852-140508981	MCF-7	breast:	n/a	n/a
38	POLR2A	chr9:140505708-140513525	HepG2	liver:	n/a	n/a
39	POLR2A	chr9:140505314-140511636	K562	blood:	n/a	n/a
40	POLR2A	chr9:140505909-140509423	GM12892	blood:	n/a	n/a
41	POLR2A	chr9:140505367-140508286	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr9:140506016-140509054	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:140506004-140506414	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr9:140505921-140508962	HCT-116	colon:	n/a	n/a
45	POLR2A	chr9:140505350-140511605	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr9:140505748-140506200	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr9:140505815-140507201	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr9:140505373-140510623	K562	blood:	n/a	n/a
49	POLR2A	chr9:140505967-140511604	K562	blood:	n/a	n/a
50	POLR2A	chr9:140506030-140509030	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:80213455..80216232-chr9:140505941..140507985,2	MCF-7	breast:
2	chr9:140469278..140479132-chr9:140503165..140510984,27	MCF-7	breast:
3	chr9:140482399..140489274-chr9:140503366..140510626,23	MCF-7	breast:
4	chr9:140441799..140446269-chr9:140505086..140508400,5	MCF-7	breast:
5	chr9:140444528..140447263-chr9:140504669..140508200,5	MCF-7	breast:
6	chr17:1619677..1620447-chr9:140505862..140506714,2	Hela-S3	cervix:
7	chr9:140117969..140119690-chr9:140505138..140507974,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARRDC1	TF binding region
ENSG00000180953	chromatin interactions
ENSG00000259332	chromatin interactions
ENSG00000165724	chromatin interactions
ENSG00000167716	chromatin interactions
ENSG00000182154	chromatin interactions
ENSG00000197191	chromatin interactions
ENSG00000259642	chromatin interactions
ENSG00000257028	chromatin interactions
ENSG00000148399	chromatin interactions
ENSG00000130653	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139232235	chr9:140506035-140506036	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs552219037	chr9:140506038-140506039	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140501400-140508400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:140501600-140506200	Weak transcription	Osteobl	bone
3	chr9:140501600-140506400	Weak transcription	HUVEC	blood vessel
4	chr9:140501600-140507800	Weak transcription	Aorta	Aorta
5	chr9:140501600-140508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:140501800-140506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:140501800-140509400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:140501800-140510000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:140501800-140512200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:140502000-140506200	Weak transcription	NH-A	brain
11	chr9:140502000-140507800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:140502000-140508600	Weak transcription	Ovary	ovary
13	chr9:140502200-140506200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:140502200-140506200	Weak transcription	GM12878-XiMat	blood
15	chr9:140502200-140506200	Weak transcription	NHDF-Ad	bronchial
16	chr9:140502200-140506200	Weak transcription	NHLF	lung
17	chr9:140502200-140506600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:140502200-140507600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:140502200-140507600	Weak transcription	Brain Germinal Matrix	brain
20	chr9:140502200-140507800	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:140502200-140507800	Weak transcription	Dnd41	blood
22	chr9:140502200-140508000	Weak transcription	Brain Angular Gyrus	brain
23	chr9:140502200-140508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:140502400-140506200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr9:140502400-140507200	Weak transcription	Fetal Brain Female	brain
26	chr9:140502400-140512000	Weak transcription	Fetal Brain Male	brain
27	chr9:140503000-140506200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr9:140503000-140507600	Weak transcription	Primary T cells from cord blood	blood
29	chr9:140503200-140508200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:140503400-140506200	Weak transcription	Fetal Heart	heart
31	chr9:140503400-140507800	Weak transcription	Fetal Thymus	thymus
32	chr9:140503600-140506400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:140503600-140507600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:140503600-140507800	Weak transcription	Primary B cells from cord blood	blood
35	chr9:140503600-140507800	Weak transcription	Brain Anterior Caudate	brain
36	chr9:140503600-140507800	Weak transcription	Thymus	Thymus
37	chr9:140503600-140508000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:140503800-140506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:140504200-140507000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:140504200-140508000	Enhancers	Placenta	Placenta
41	chr9:140504400-140507400	Weak transcription	Fetal Stomach	stomach
42	chr9:140505200-140506400	Enhancers	Fetal Intestine Large	intestine
43	chr9:140505200-140508000	Enhancers	Lung	lung
44	chr9:140505400-140506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:140505400-140506200	Enhancers	Stomach Mucosa	stomach
46	chr9:140505400-140506800	Enhancers	Stomach Smooth Muscle	stomach
47	chr9:140505400-140507200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:140505400-140507200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:140505400-140507200	Enhancers	Fetal Muscle Leg	muscle
50	chr9:140505400-140507200	Enhancers	Skeletal Muscle Female	skeletal muscle

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