Variant report

Variant	nsv1007650
Chromosome Location	chr4:97393803-97485770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:97448242..97448901-chr4:116774488..116775301,2	MCF-7	breast:
2	chr4:97404242..97405044-chr4:98905771..98906367,3	MCF-7	breast:
3	chr4:97348705..97351235-chr4:97411627..97413798,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDHA2-4	chr4:97450875-97450968	ucscGeneNc_uc003hts_1

Extended variants
information (count: 1934 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139163819	chr4:97393810-97393811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185008797	chr4:97393820-97393821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552646751	chr4:97393838-97393839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145210120	chr4:97393886-97393887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536255346	chr4:97393917-97393918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367856441	chr4:97393937-97393938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541432887	chr4:97393957-97393958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372050400	chr4:97393963-97393964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188325039	chr4:97393970-97393971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144096584	chr4:97394003-97394004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544070124	chr4:97394010-97394011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576107134	chr4:97394012-97394013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376906967	chr4:97394013-97394014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532733693	chr4:97394015-97394016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375751735	chr4:97394066-97394067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147653095	chr4:97394100-97394101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75683840	chr4:97394101-97394102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76642221	chr4:97394102-97394103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559891538	chr4:97394107-97394108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140570225	chr4:97394117-97394118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548619771	chr4:97394145-97394146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201546054	chr4:97394221-97394222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568436052	chr4:97394224-97394225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376920887	chr4:97394227-97394228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147854778	chr4:97394305-97394306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536975398	chr4:97394327-97394328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550842176	chr4:97394329-97394330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192639748	chr4:97394366-97394367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539622891	chr4:97394462-97394463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34198564	chr4:97394501-97394502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28433709	chr4:97394529-97394530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535148685	chr4:97394569-97394570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554968898	chr4:97394608-97394609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs938547	chr4:97394681-97394682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542222455	chr4:97394684-97394685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543804279	chr4:97394686-97394687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547722468	chr4:97394728-97394729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577418960	chr4:97394750-97394751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563561972	chr4:97394758-97394759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546429776	chr4:97394765-97394766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559952958	chr4:97394795-97394796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528619107	chr4:97394797-97394798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542321697	chr4:97394801-97394802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183746815	chr4:97394806-97394807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs938548	chr4:97394807-97394808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550653319	chr4:97394886-97394887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570733562	chr4:97394887-97394888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533020694	chr4:97394891-97394892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144206050	chr4:97394941-97394942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570609118	chr4:97394961-97394962	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97393600-97394000	Enhancers	Fetal Intestine Large	intestine
2	chr4:97393600-97395000	Enhancers	Stomach Mucosa	stomach
3	chr4:97393800-97394200	Enhancers	Fetal Intestine Small	intestine
4	chr4:97393800-97395000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:97394000-97394400	Enhancers	Hela-S3	cervix
6	chr4:97395000-97395600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:97395200-97395600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:97395400-97395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:97395400-97395800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:97397200-97399600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:97398600-97399000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr4:97399200-97400200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:97400200-97404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:97404800-97405000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:97404800-97405400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:97404800-97405400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:97404800-97406000	ZNF genes & repeats	Dnd41	blood
18	chr4:97405800-97406400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:97406600-97407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:97407200-97407400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:97407400-97408200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:97407400-97408200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:97407600-97408400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:97408000-97408600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:97408000-97408600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:97415400-97416400	ZNF genes & repeats	Dnd41	blood
27	chr4:97424200-97424600	Enhancers	Gastric	stomach
28	chr4:97424600-97425800	Weak transcription	Gastric	stomach
29	chr4:97424800-97425400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:97425200-97425600	Weak transcription	Dnd41	blood
31	chr4:97425400-97425800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:97425600-97426000	ZNF genes & repeats	Dnd41	blood
33	chr4:97425800-97426000	Enhancers	Gastric	stomach
34	chr4:97425800-97426600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:97426000-97427400	Weak transcription	Dnd41	blood
36	chr4:97427400-97430000	Enhancers	Dnd41	blood
37	chr4:97430000-97430800	Flanking Active TSS	Dnd41	blood
38	chr4:97430400-97430800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:97430800-97432800	Enhancers	Dnd41	blood
40	chr4:97432800-97433200	Weak transcription	Dnd41	blood
41	chr4:97433800-97434200	ZNF genes & repeats	Dnd41	blood
42	chr4:97434200-97435200	Weak transcription	Dnd41	blood
43	chr4:97435200-97435600	Enhancers	Dnd41	blood
44	chr4:97435600-97436800	Weak transcription	Dnd41	blood
45	chr4:97436800-97437200	Enhancers	Dnd41	blood
46	chr4:97437200-97440600	Flanking Active TSS	Dnd41	blood
47	chr4:97439800-97440200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:97440200-97441000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr4:97440400-97441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:97440600-97442400	Enhancers	Dnd41	blood

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