Variant report

Variant	esv2763381
Chromosome Location	chr4:97140746-97193871
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	chr4:97174563..97176732-chr4:97282381..97284958,2	K562	blood:

Extended variants
information (count: 964 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116025366	chr4:97141201-97141202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544030256	chr4:97141203-97141204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566225741	chr4:97141225-97141226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151309292	chr4:97141237-97141238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371502959	chr4:97141242-97141243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185694791	chr4:97141342-97141343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188972181	chr4:97141366-97141367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370967418	chr4:97141369-97141370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574868499	chr4:97141372-97141373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139340719	chr4:97141373-97141374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74644493	chr4:97141391-97141392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192255176	chr4:97141421-97141422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184365519	chr4:97141423-97141424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552899130	chr4:97141469-97141470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188752649	chr4:97141523-97141524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563987238	chr4:97141553-97141554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368606324	chr4:97141579-97141580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371582135	chr4:97141665-97141666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12499067	chr4:97141667-97141668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55847611	chr4:97141674-97141675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181266884	chr4:97141733-97141734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150062442	chr4:97141756-97141757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183847707	chr4:97141776-97141777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532677852	chr4:97141833-97141834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560472110	chr4:97141842-97141843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552804134	chr4:97141862-97141863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4699485	chr4:97141872-97141873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs528713692	chr4:97141889-97141890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145384702	chr4:97141908-97141909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568608305	chr4:97141922-97141923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189298786	chr4:97141947-97141948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180793802	chr4:97141951-97141952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570818750	chr4:97141958-97141959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539366329	chr4:97142005-97142006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368048812	chr4:97142025-97142026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs70948477	chr4:97142026-97142027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553202374	chr4:97142030-97142031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187399923	chr4:97142031-97142032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535673409	chr4:97142036-97142037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529649872	chr4:97142063-97142064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568934187	chr4:97142163-97142164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77075566	chr4:97142224-97142225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543865726	chr4:97142228-97142229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75581943	chr4:97142254-97142255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533354363	chr4:97142311-97142312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539826004	chr4:97142326-97142327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192260262	chr4:97142328-97142329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141416735	chr4:97142367-97142368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548811929	chr4:97142373-97142374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181806205	chr4:97142379-97142380	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97141200-97141600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:97141200-97141800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:97141200-97141800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:97141200-97142400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:97141400-97141800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:97141600-97141800	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:97141600-97142400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:97148600-97149400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:97148600-97149800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:97149000-97149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:97149000-97150000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:97149000-97150000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:97149200-97149800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:97149800-97150000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:97158000-97158400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr4:97158400-97158600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:97161200-97161600	Enhancers	Fetal Lung	lung
18	chr4:97164600-97167000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:97172000-97172200	Enhancers	Gastric	stomach
20	chr4:97172200-97183200	Weak transcription	Gastric	stomach
21	chr4:97176200-97176600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:97176600-97181200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:97181000-97182600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:97181000-97184200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:97181200-97181400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:97181200-97181800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:97181200-97182000	Enhancers	Fetal Intestine Large	intestine
28	chr4:97181200-97182600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:97181200-97182600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:97181200-97183000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:97181200-97183200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:97181400-97181600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:97181400-97181600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:97181400-97182600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:97181400-97183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:97181600-97182400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:97181600-97185000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:97181800-97182400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:97182000-97185000	Weak transcription	Fetal Intestine Large	intestine
40	chr4:97182400-97182600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:97182400-97182600	Enhancers	Fetal Brain Male	brain
42	chr4:97182400-97183000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:97182400-97183400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:97182400-97183600	Enhancers	Stomach Mucosa	stomach
45	chr4:97182600-97186600	Weak transcription	Fetal Brain Male	brain
46	chr4:97183000-97184000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:97183200-97183600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:97183200-97183600	Enhancers	Gastric	stomach
49	chr4:97183200-97183800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr4:97183600-97185000	Weak transcription	Stomach Mucosa	stomach

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