Variant report

Variant	esv3397075
Chromosome Location	chr4:97213529-97215627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116635916	chr4:97213555-97213556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75197549	chr4:97213604-97213605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534567886	chr4:97213605-97213606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548371652	chr4:97213655-97213656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568113804	chr4:97213664-97213665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563977592	chr4:97213671-97213672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145316637	chr4:97213693-97213694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147658821	chr4:97213708-97213709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556769810	chr4:97213726-97213727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576948475	chr4:97213731-97213732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114357323	chr4:97213732-97213733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557490698	chr4:97213742-97213743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138966381	chr4:97213750-97213751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181039504	chr4:97213764-97213765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374064543	chr4:97213810-97213811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561575875	chr4:97213813-97213814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575722758	chr4:97213827-97213828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6857113	chr4:97213828-97213829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185165683	chr4:97213887-97213888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532445359	chr4:97213912-97213913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564450912	chr4:97213914-97213915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528644088	chr4:97213956-97213957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552165852	chr4:97214085-97214086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13121111	chr4:97214097-97214098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547062000	chr4:97214098-97214099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559279592	chr4:97214117-97214118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559287283	chr4:97214118-97214119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529871064	chr4:97214128-97214129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34155459	chr4:97214136-97214137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548182759	chr4:97214138-97214139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568285146	chr4:97214141-97214142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536828430	chr4:97214164-97214165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148971077	chr4:97214204-97214205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548204073	chr4:97214233-97214234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62316820	chr4:97214268-97214269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs111422555	chr4:97214303-97214304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs70948481	chr4:97214377-97214378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13102654	chr4:97214482-97214483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368197978	chr4:97214652-97214653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554772266	chr4:97214672-97214673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138595120	chr4:97214676-97214677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143759884	chr4:97214678-97214679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553007690	chr4:97214707-97214708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564836897	chr4:97214784-97214785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6815032	chr4:97214830-97214831	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377570117	chr4:97214851-97214852	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148180305	chr4:97214854-97214855	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189585226	chr4:97214864-97214865	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6815558	chr4:97214865-97214866	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181994635	chr4:97214872-97214873	Flanking Active TSS Enhancers	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97212800-97214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:97212800-97214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:97214000-97214200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:97214200-97214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:97214600-97214800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:97214800-97215000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:97214800-97215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:97214800-97215400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:97215000-97215400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:97215200-97215400	Enhancers	Left Ventricle	heart
11	chr4:97215200-97215600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:97215400-97216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:97215400-97219200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:97215600-97216600	Weak transcription	Left Ventricle	heart

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