Variant report

Variant	esv3327080
Chromosome Location	chr4:78845375-78846442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78830111..78832378-chr4:78846215..78847965,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147036390	chr4:78845385-78845386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35402019	chr4:78845386-78845387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199805305	chr4:78845387-78845388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10628114	chr4:78845388-78845389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141156253	chr4:78845579-78845580	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577874274	chr4:78845644-78845645	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534084308	chr4:78845651-78845652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191733712	chr4:78845682-78845683	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184282918	chr4:78845715-78845716	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72869595	chr4:78845756-78845757	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368477383	chr4:78845757-78845758	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147110263	chr4:78845784-78845785	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563676773	chr4:78845873-78845874	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529207311	chr4:78845894-78845895	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151107588	chr4:78845945-78845946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192023773	chr4:78846138-78846139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185324720	chr4:78846195-78846196	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190201546	chr4:78846201-78846202	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551887580	chr4:78846220-78846221	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564106040	chr4:78846240-78846241	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533210597	chr4:78846304-78846305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550090151	chr4:78846325-78846326	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58054752	chr4:78846344-78846345	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs141111039	chr4:78846362-78846363	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548718011	chr4:78846385-78846386	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542380731	chr4:78846415-78846416	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565703387	chr4:78846437-78846438	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
2	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
3	chr4:78794000-78851200	Weak transcription	Spleen	Spleen
4	chr4:78794200-78851800	Weak transcription	Lung	lung
5	chr4:78802400-78858400	Weak transcription	Aorta	Aorta
6	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:78806600-78875600	Weak transcription	Colonic Mucosa	Colon
8	chr4:78808800-78852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:78809200-78847000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:78809600-78851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:78809600-78851400	Weak transcription	Ovary	ovary
12	chr4:78809600-78865400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:78809600-78881200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:78810000-78851800	Weak transcription	Thymus	Thymus
15	chr4:78814600-78874400	Weak transcription	Pancreas	Pancrea
16	chr4:78816400-78866400	Weak transcription	Fetal Thymus	thymus
17	chr4:78816400-78876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:78816600-78851400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:78816600-78875800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:78818800-78872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:78819200-78846200	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:78819200-78852000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:78819600-78851200	Weak transcription	Adipose Nuclei	Adipose
24	chr4:78820800-78851200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:78821000-78849000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:78821000-78866000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:78821400-78873200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:78830000-78866600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:78830200-78846400	Weak transcription	Fetal Intestine Small	intestine
30	chr4:78830200-78847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:78830200-78851200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:78830200-78852000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:78830400-78877000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:78831800-78865800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:78832000-78845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:78832000-78846800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:78832000-78851400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:78832000-78858000	Weak transcription	Fetal Stomach	stomach
39	chr4:78833400-78845600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:78833400-78846600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr4:78833400-78847200	Weak transcription	K562	blood
42	chr4:78833400-78851400	Weak transcription	Liver	Liver
43	chr4:78833600-78865400	Weak transcription	Fetal Kidney	kidney
44	chr4:78833800-78845600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:78834000-78852800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:78834800-78845600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:78834800-78845600	Weak transcription	Dnd41	blood
48	chr4:78834800-78847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:78835200-78845600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:78835400-78847200	Weak transcription	Primary hematopoietic stem cells	blood

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