Variant report

Variant	nsv998916
Chromosome Location	chr2:186181992-186217685
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	chr2:186182448..186185032-chr9:101737617..101739647,2	MCF-7	breast:

Extended variants
information (count: 372 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555076054	chr2:186182044-186182045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577554094	chr2:186182074-186182075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114494841	chr2:186182112-186182113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367653589	chr2:186182146-186182147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183146474	chr2:186182183-186182184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572338239	chr2:186182231-186182232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542967910	chr2:186182244-186182245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13033166	chr2:186182262-186182263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531545452	chr2:186182263-186182264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377201758	chr2:186182279-186182280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77122587	chr2:186182283-186182284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11308643	chr2:186182299-186182300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375922862	chr2:186182306-186182307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577451609	chr2:186182343-186182344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544821041	chr2:186182351-186182352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370002272	chr2:186182367-186182368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532380107	chr2:186182375-186182376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547803942	chr2:186182376-186182377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565749707	chr2:186182383-186182384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536518880	chr2:186182386-186182387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187598662	chr2:186182435-186182436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569873206	chr2:186182478-186182479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563217035	chr2:186182505-186182506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555980198	chr2:186182522-186182523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530719596	chr2:186182523-186182524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117120598	chr2:186182524-186182525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193021447	chr2:186182529-186182530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112994346	chr2:186182540-186182541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368416383	chr2:186182559-186182560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549319317	chr2:186182561-186182562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542904548	chr2:186182602-186182603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554944993	chr2:186182640-186182641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371885022	chr2:186182642-186182643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372323772	chr2:186182767-186182768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375569925	chr2:186182829-186182830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576301254	chr2:186182904-186182905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146124707	chr2:186182935-186182936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561167210	chr2:186182950-186182951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528585364	chr2:186182965-186182966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369317048	chr2:186182967-186182968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532604448	chr2:186182992-186182993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12989637	chr2:186183016-186183017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571783987	chr2:186183074-186183075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559273589	chr2:186183083-186183084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62198771	chr2:186183130-186183131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530044192	chr2:186183152-186183153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527954998	chr2:186183154-186183155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189028242	chr2:186183188-186183189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34212416	chr2:186183191-186183192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377241876	chr2:186183200-186183201	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186182000-186183400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:186182200-186182600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:186182200-186183000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:186182200-186183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:186182400-186182800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:186182400-186183000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr2:186182400-186183400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:186183000-186183800	Enhancers	HepG2	liver
9	chr2:186191400-186191800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:186196800-186197200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:186196800-186197200	ZNF genes & repeats	Aorta	Aorta
12	chr2:186196800-186197200	ZNF genes & repeats	Gastric	stomach
13	chr2:186196800-186197200	ZNF genes & repeats	Pancreas	Pancrea
14	chr2:186200400-186201400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:186202200-186203600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:186202600-186203600	Enhancers	HMEC	breast
17	chr2:186203600-186207400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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