Variant report

Variant	esv2641834
Chromosome Location	chr4:97571474-97573227
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	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556655857	chr4:97571475-97571476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141802274	chr4:97571489-97571490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575069356	chr4:97571500-97571501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112701270	chr4:97571568-97571569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542393601	chr4:97571577-97571578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6834084	chr4:97571587-97571588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373127834	chr4:97571603-97571604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182004899	chr4:97571610-97571611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540203101	chr4:97571627-97571628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185195628	chr4:97571641-97571642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532560024	chr4:97571678-97571679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551060186	chr4:97571687-97571688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569396291	chr4:97571698-97571699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530245501	chr4:97571721-97571722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548756026	chr4:97571726-97571727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567002253	chr4:97571746-97571747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188341304	chr4:97571765-97571766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377449203	chr4:97571771-97571772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6834151	chr4:97571778-97571779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568660395	chr4:97571787-97571788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6833987	chr4:97571789-97571790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562719357	chr4:97571801-97571802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181108602	chr4:97571829-97571830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6834324	chr4:97571830-97571831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs574981561	chr4:97571861-97571862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536002191	chr4:97571872-97571873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34891697	chr4:97571886-97571887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554744539	chr4:97571900-97571901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72689746	chr4:97571909-97571910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs78048457	chr4:97571928-97571929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565049270	chr4:97571944-97571945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145326315	chr4:97572018-97572019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79806862	chr4:97572040-97572041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562904072	chr4:97572065-97572066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186555570	chr4:97572086-97572087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370505584	chr4:97572114-97572115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571854677	chr4:97572125-97572126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375049544	chr4:97572257-97572258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560696302	chr4:97572291-97572292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527899009	chr4:97572343-97572344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546347722	chr4:97572382-97572383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78291301	chr4:97572404-97572405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74895585	chr4:97572406-97572407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7682780	chr4:97572421-97572422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58219293	chr4:97572424-97572425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552810521	chr4:97572469-97572470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570789220	chr4:97572485-97572486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538183718	chr4:97572501-97572502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558305087	chr4:97572524-97572525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550149677	chr4:97572560-97572561	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97569600-97571800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:97570000-97571800	Enhancers	Dnd41	blood
3	chr4:97570200-97571600	Enhancers	NH-A	brain
4	chr4:97570600-97571800	Enhancers	Fetal Intestine Small	intestine
5	chr4:97571800-97574200	Weak transcription	Dnd41	blood

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