Variant report

Variant	esv3366815
Chromosome Location	chr4:769033-769500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:767106..770091-chr4:898596..900634,2	MCF-7	breast:
2	chr4:761315..764125-chr4:766896..769678,2	MCF-7	breast:
3	chr4:767045..769488-chr4:820601..823147,2	K562	blood:
4	chr4:734991..736577-chr4:768033..771031,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546418235	chr4:769038-769039	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564506830	chr4:769124-769125	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576703096	chr4:769130-769131	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543731834	chr4:769152-769153	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374012566	chr4:769189-769190	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183126948	chr4:769191-769192	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377660971	chr4:769220-769221	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547491091	chr4:769249-769250	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73222827	chr4:769259-769260	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551974989	chr4:769269-769270	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372056843	chr4:769289-769290	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111285213	chr4:769298-769299	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148988466	chr4:769299-769300	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140705541	chr4:769300-769301	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143755770	chr4:769301-769302	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61574804	chr4:769302-769303	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111541875	chr4:769303-769304	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113445602	chr4:769307-769308	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569721465	chr4:769315-769316	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537365572	chr4:769340-769341	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549256580	chr4:769448-769449	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187850733	chr4:769462-769463	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200054255	chr4:769477-769478	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553174445	chr4:769480-769481	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:746000-773800	Weak transcription	Fetal Brain Male	brain
2	chr4:753600-773800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:753800-771600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr4:753800-773200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:753800-773200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:753800-773400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:753800-773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:754000-771600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr4:754000-773600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:754200-771600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:754400-773400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:755600-774200	Weak transcription	Hela-S3	cervix
13	chr4:758200-769200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:758400-774200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:758600-773800	Strong transcription	Fetal Thymus	thymus
16	chr4:759600-773800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:759800-769200	Strong transcription	Liver	Liver
18	chr4:759800-773400	Strong transcription	NHLF	lung
19	chr4:761000-773000	Strong transcription	Fetal Intestine Large	intestine
20	chr4:761400-774200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:761800-774200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:762000-773400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:762000-773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:762200-773400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:762400-773400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:762600-773400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr4:762800-774000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:763600-771000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:764200-774200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:764600-769800	Weak transcription	NHDF-Ad	bronchial
31	chr4:764600-770000	Genic enhancers	Fetal Muscle Leg	muscle
32	chr4:764800-773400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:765200-770200	Genic enhancers	Left Ventricle	heart
34	chr4:765200-774000	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr4:765400-770000	Genic enhancers	Brain Hippocampus Middle	brain
36	chr4:765400-771600	Genic enhancers	Brain Anterior Caudate	brain
37	chr4:765600-769400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:765600-770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:765800-769600	Weak transcription	NH-A	brain
40	chr4:766000-769400	Weak transcription	HSMMtube	muscle
41	chr4:766000-769600	Weak transcription	K562	blood
42	chr4:766000-770800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:766200-769800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:766200-771400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr4:766600-771600	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr4:766600-771600	Genic enhancers	Lung	lung
47	chr4:766600-773800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:766800-769800	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr4:766800-770600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:766800-771600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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