Variant report

Variant	esv1002219
Chromosome Location	chr4:8318244-8318281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr4:8317352-8318270	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr4:8317289-8318427	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr4:8317087-8318549	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr4:8318006-8318373	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr4:8317086-8318381	ECC-1	luminal epithelium:	n/a	chr4:8317748-8317763
6	ESR1	chr4:8317301-8318345	ECC-1	luminal epithelium:	n/a	chr4:8317748-8317763
7	FOXM1	chr4:8317292-8318266	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr4:8317021-8318246	ECC-1	luminal epithelium:	n/a	chr4:8317869-8317879
9	MAX	chr4:8317162-8318324	A549	lung:	n/a	chr4:8317869-8317879
10	MAX	chr4:8317089-8318350	ECC-1	luminal epithelium:	n/a	chr4:8317869-8317879
11	MAZ	chr4:8317149-8318562	IMR90	lung:	n/a	chr4:8317869-8317879
12	NFIC	chr4:8317090-8318454	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr4:8317144-8318427	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr4:8317195-8318258	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr4:8317115-8318613	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr4:8317063-8318615	ECC-1	luminal epithelium:	n/a	n/a
17	TEAD4	chr4:8317308-8318343	ECC-1	luminal epithelium:	n/a	n/a
18	TEAD4	chr4:8317165-8318389	ECC-1	luminal epithelium:	n/a	n/a
19	YY1	chr4:8317250-8318244	ECC-1	luminal epithelium:	n/a	chr4:8317472-8317481
20	ZBTB7A	chr4:8317438-8318641	ECC-1	luminal epithelium:	n/a	n/a
21	ZBTB7A	chr4:8317422-8318615	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8183603..8185806-chr4:8316475..8318494,2	MCF-7	breast:
2	chr4:8312041..8314245-chr4:8317234..8319161,2	K562	blood:
3	chr4:8315694..8318647-chr4:8336893..8339393,2	K562	blood:
4	chr4:8306129..8312354-chr4:8314662..8318399,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249145	TF binding region
ENSG00000248986	TF binding region
ENSG00000125089	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199753768	chr4:8318249-8318250	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs78025406	chr4:8318262-8318263	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs146349696	chr4:8318267-8318268	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs75348527	chr4:8318268-8318269	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs75302430	chr4:8318269-8318270	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs79295120	chr4:8318275-8318276	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs76549026	chr4:8318276-8318277	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs77702629	chr4:8318277-8318278	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs79723858	chr4:8318279-8318280	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs76232596	chr4:8318280-8318281	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8311800-8320800	Weak transcription	Psoas Muscle	Psoas
2	chr4:8316400-8318800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:8316600-8318600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8316600-8318600	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:8316600-8319000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:8316600-8319000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:8316600-8319200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8316600-8321000	Enhancers	Fetal Heart	heart
9	chr4:8316800-8318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:8316800-8318400	Enhancers	Left Ventricle	heart
11	chr4:8316800-8318600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:8316800-8318600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:8316800-8318800	Enhancers	Fetal Muscle Leg	muscle
14	chr4:8316800-8318800	Enhancers	Thymus	Thymus
15	chr4:8316800-8319000	Enhancers	Ovary	ovary
16	chr4:8316800-8319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:8316800-8319200	Enhancers	Fetal Thymus	thymus
18	chr4:8316800-8319400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:8317000-8318400	Enhancers	Fetal Intestine Small	intestine
20	chr4:8317000-8318600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:8317000-8318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:8317000-8318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:8317000-8318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:8317000-8318600	Enhancers	Fetal Stomach	stomach
25	chr4:8317000-8318600	Enhancers	NHLF	lung
26	chr4:8317000-8318800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:8317000-8319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:8317200-8318400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:8317200-8318400	Enhancers	Right Ventricle	heart
30	chr4:8317200-8318600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:8317200-8318600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:8317200-8318800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:8317200-8318800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:8317200-8319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:8317400-8318600	Enhancers	Fetal Brain Male	brain
36	chr4:8317400-8318600	Enhancers	Placenta	Placenta
37	chr4:8317400-8318800	Enhancers	Brain Germinal Matrix	brain
38	chr4:8317400-8318800	Enhancers	HUVEC	blood vessel
39	chr4:8317400-8319000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:8317400-8319000	Enhancers	HSMMtube	muscle
41	chr4:8317600-8322800	Weak transcription	Fetal Kidney	kidney
42	chr4:8317600-8323000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:8317800-8318400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:8317800-8318600	Enhancers	HMEC	breast
45	chr4:8317800-8318600	Enhancers	NH-A	brain
46	chr4:8317800-8318600	Enhancers	NHEK	skin
47	chr4:8317800-8319000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:8317800-8319000	Enhancers	HSMM	muscle
49	chr4:8317800-8319200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:8317800-8319400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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