Variant report

Variant	esv3350741
Chromosome Location	chr4:78993717-78994220
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	chr4:78982293..78984651-chr4:78992521..78995488,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182572660	chr4:78993734-78993735	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72654634	chr4:78993765-78993766	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs72654635	chr4:78993769-78993770	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10028831	chr4:78993773-78993774	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554673711	chr4:78993815-78993816	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568213263	chr4:78993822-78993823	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534058628	chr4:78993889-78993890	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376164159	chr4:78993916-78993917	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370261495	chr4:78993958-78993959	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566108511	chr4:78993959-78993960	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549028370	chr4:78993960-78993961	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199739828	chr4:78993967-78993968	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552736918	chr4:78993996-78993997	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552600209	chr4:78994007-78994008	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369984226	chr4:78994016-78994017	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9307332	chr4:78994101-78994102	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146379683	chr4:78994110-78994111	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575460378	chr4:78994142-78994143	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185741496	chr4:78994159-78994160	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34049744	chr4:78994167-78994168	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78980800-78998200	Weak transcription	Pancreas	Pancrea
2	chr4:78981000-78995600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:78981200-79016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:78982200-78998200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:78983400-78996000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:78983400-79001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:78986200-78995600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:78987000-78995600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:78987400-78994400	Weak transcription	Fetal Kidney	kidney
10	chr4:78988000-78994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:78988800-79002600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:78988800-79003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:78990800-78996000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:78991400-78995600	Weak transcription	Fetal Intestine Large	intestine
15	chr4:78991400-78996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:78991400-79000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:78991400-79000800	Weak transcription	Psoas Muscle	Psoas
18	chr4:78992200-78993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:78992200-78993800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:78992200-79006800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:78992400-78994400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:78992800-78993800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:78992800-78995200	Weak transcription	HepG2	liver
24	chr4:78992800-78995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:78992800-78997600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:78993200-78994400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:78993200-78995400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:78993600-78995000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:78993800-78994800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:78994000-78994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:78994000-78994600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:78994000-78999000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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