Variant report

Variant	nsv998409
Chromosome Location	chr4:91888883-91915429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:91905983..91908591-chr4:91914277..91915974,2	MCF-7	breast:
2	chr4:91903199..91905652-chr4:91956772..91959683,2	MCF-7	breast:
3	chr4:91905983..91908591-chr4:91914277..91915974,2	MCF-7	breast:
4	chr4:91874557..91876563-chr4:91888568..91890904,2	K562	blood:

Extended variants
information (count: 271 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538104767	chr4:91903440-91903441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1461596	chr4:91903467-91903468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115483193	chr4:91903499-91903500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539027757	chr4:91903539-91903540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552526051	chr4:91903547-91903548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563146543	chr4:91903558-91903559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181484357	chr4:91903560-91903561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535697336	chr4:91903679-91903680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146473590	chr4:91903683-91903684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113784281	chr4:91903704-91903705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555787636	chr4:91903784-91903785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536339320	chr4:91903785-91903786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376785415	chr4:91903793-91903794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575391521	chr4:91903827-91903828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1381297	chr4:91903868-91903869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372615697	chr4:91904050-91904051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578163913	chr4:91904065-91904066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529809143	chr4:91904094-91904095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7688241	chr4:91904116-91904117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560456714	chr4:91904152-91904153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529274998	chr4:91904180-91904181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185300758	chr4:91904208-91904209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563080617	chr4:91904218-91904219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138731705	chr4:91904294-91904295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531971289	chr4:91904331-91904332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370331231	chr4:91904332-91904333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551590530	chr4:91904343-91904344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73834715	chr4:91904389-91904390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72665479	chr4:91904394-91904395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149340638	chr4:91904499-91904500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566414264	chr4:91904509-91904510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190508312	chr4:91904567-91904568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17017863	chr4:91904643-91904644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181546404	chr4:91904648-91904649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17199344	chr4:91904684-91904685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186425174	chr4:91904698-91904699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1461597	chr4:91904728-91904729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540684173	chr4:91904762-91904763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560429847	chr4:91904765-91904766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573970064	chr4:91904770-91904771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377572279	chr4:91904805-91904806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76727749	chr4:91904814-91904815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11932231	chr4:91904830-91904831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531854236	chr4:91904891-91904892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574633790	chr4:91904900-91904901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375735358	chr4:91904923-91904924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565099043	chr4:91904924-91904925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540707505	chr4:91904973-91904974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17017867	chr4:91904978-91904979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577389103	chr4:91904986-91904987	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Multiple myeloma	17550852	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 adenocarcinoma	18519675	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91903400-91904400	Enhancers	Brain Germinal Matrix	brain
2	chr4:91903800-91904200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:91904200-91905800	Enhancers	Colon Smooth Muscle	Colon
4	chr4:91910000-91911800	Enhancers	Fetal Lung	lung
5	chr4:91911000-91912000	Enhancers	Fetal Heart	heart
6	chr4:91912000-91915800	Weak transcription	Fetal Heart	heart
7	chr4:91912800-91913400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:91913000-91913400	Enhancers	HUES6 Cell Line	embryonic stem cell

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