Variant report

Variant	esv3366862
Chromosome Location	chr4:79193628-79198326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 264 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369882036	chr4:79193631-79193632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575062734	chr4:79193674-79193675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534530416	chr4:79193693-79193694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150309629	chr4:79193718-79193719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112797244	chr4:79193751-79193752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189743908	chr4:79193761-79193762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200155409	chr4:79193767-79193768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77935480	chr4:79193780-79193781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34887724	chr4:79193783-79193784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576530146	chr4:79193784-79193785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75653367	chr4:79193786-79193787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138940726	chr4:79193810-79193811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6533571	chr4:79193839-79193840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546513003	chr4:79193865-79193866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560348960	chr4:79193867-79193868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532021787	chr4:79193888-79193889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527450697	chr4:79193891-79193892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552190794	chr4:79193896-79193897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568757242	chr4:79193917-79193918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537967740	chr4:79193925-79193926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548289816	chr4:79193965-79193966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186824145	chr4:79193983-79193984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200090087	chr4:79193984-79193985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571029106	chr4:79194009-79194010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534360265	chr4:79194028-79194029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190802503	chr4:79194042-79194043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577423836	chr4:79194104-79194105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539743765	chr4:79194111-79194112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556552028	chr4:79194140-79194141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576345880	chr4:79194155-79194156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541938739	chr4:79194181-79194182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561819524	chr4:79194182-79194183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574297437	chr4:79194183-79194184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539998734	chr4:79194184-79194185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560081301	chr4:79194271-79194272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142160933	chr4:79194276-79194277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143702541	chr4:79194311-79194312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562537195	chr4:79194312-79194313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531297759	chr4:79194327-79194328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548324162	chr4:79194339-79194340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568113532	chr4:79194348-79194349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550761634	chr4:79194374-79194375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527894208	chr4:79194375-79194376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34149379	chr4:79194381-79194382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548007254	chr4:79194392-79194393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183362947	chr4:79194416-79194417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs186526428	chr4:79194430-79194431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189786827	chr4:79194444-79194445	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113815554	chr4:79194471-79194472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182670167	chr4:79194481-79194482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Pancreatic cancer	17952125	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:79187600-79214800	Weak transcription	Left Ventricle	heart
6	chr4:79187800-79197400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:79187800-79197600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:79187800-79210400	Weak transcription	Fetal Kidney	kidney
9	chr4:79188000-79209400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:79188200-79193800	Weak transcription	HSMMtube	muscle
11	chr4:79188400-79197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:79188600-79198000	Weak transcription	Pancreas	Pancrea
13	chr4:79188600-79200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
15	chr4:79188800-79197200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:79188800-79201000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:79189000-79197400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:79189000-79198000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:79189000-79198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:79189400-79207400	Weak transcription	Fetal Lung	lung
21	chr4:79189600-79199400	Weak transcription	HepG2	liver
22	chr4:79190000-79197400	Weak transcription	Fetal Intestine Small	intestine
23	chr4:79191400-79213600	Weak transcription	Psoas Muscle	Psoas
24	chr4:79191800-79197400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:79192000-79197400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:79192200-79213800	Weak transcription	Fetal Heart	heart
27	chr4:79192400-79194400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:79192400-79195600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:79192400-79195600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:79192400-79196600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:79192600-79194800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:79193000-79196200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:79194400-79195200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:79196200-79198800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr4:79196600-79198600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr4:79196600-79198600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr4:79197200-79198600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr4:79197400-79198200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:79197400-79198400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:79197400-79198600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:79197400-79198600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr4:79197400-79198600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
43	chr4:79197400-79198600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr4:79197400-79198600	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr4:79197400-79198800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr4:79197400-79198800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:79197400-79201600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:79197600-79198800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:79197800-79198600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:79198000-79198600	ZNF genes & repeats	Fetal Intestine Large	intestine

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