Variant report

Variant	nsv879582
Chromosome Location	chr4:92379081-92483806
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	chr4:92034306..92035417-chr4:92423226..92424074,5	MCF-7	breast:

Extended variants
information (count: 690 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530832482	chr4:92408029-92408030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550917956	chr4:92408030-92408031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184372754	chr4:92408039-92408040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533648119	chr4:92408085-92408086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13103495	chr4:92408133-92408134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567062860	chr4:92408149-92408150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536005187	chr4:92408165-92408166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188761348	chr4:92408293-92408294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559981567	chr4:92408340-92408341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568110775	chr4:92408365-92408366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559011262	chr4:92408398-92408399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116346031	chr4:92408415-92408416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577119944	chr4:92408518-92408519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527319637	chr4:92408532-92408533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565147189	chr4:92408533-92408534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556893544	chr4:92408539-92408540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532159578	chr4:92408581-92408582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145810232	chr4:92408616-92408617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550555842	chr4:92408690-92408691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138247208	chr4:92408697-92408698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115642592	chr4:92408741-92408742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149496791	chr4:92408766-92408767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541403150	chr4:92408811-92408812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112381967	chr4:92408815-92408816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74767295	chr4:92408831-92408832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116830324	chr4:92408867-92408868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13138113	chr4:92408898-92408899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74426515	chr4:92408899-92408900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12640730	chr4:92408975-92408976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73837624	chr4:92408987-92408988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563847339	chr4:92409166-92409167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547319138	chr4:92409171-92409172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112799162	chr4:92409175-92409176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148620281	chr4:92409282-92409283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181952307	chr4:92409283-92409284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147645378	chr4:92409313-92409314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62309608	chr4:92409328-92409329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550200756	chr4:92409357-92409358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570121582	chr4:92409368-92409369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539001251	chr4:92409385-92409386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187054060	chr4:92409386-92409387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572767175	chr4:92409406-92409407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs66754254	chr4:92409421-92409422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78330206	chr4:92409440-92409441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575698781	chr4:92409512-92409513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76457446	chr4:92409583-92409584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2178657	chr4:92409607-92409608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142684238	chr4:92409686-92409687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28741030	chr4:92409712-92409713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565370461	chr4:92409723-92409724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92408000-92408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:92408200-92408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:92408200-92408600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:92408200-92408800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:92408400-92408600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:92408400-92408800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:92408600-92409600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:92408600-92409600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:92408800-92410000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:92408800-92410000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:92409600-92410000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:92409800-92410000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:92410000-92410400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:92410200-92410400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:92432400-92432800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:92432800-92439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:92439600-92440000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:92439800-92440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:92440000-92440200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:92440200-92443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:92446200-92446600	Enhancers	Fetal Intestine Large	intestine
22	chr4:92446200-92446600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr4:92446600-92447000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:92446600-92447000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr4:92446600-92447000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr4:92446600-92447000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:92459600-92460200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:92480000-92487000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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