Variant report

Variant	nsv517730
Chromosome Location	chr2:184938401-184954425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
2	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
3	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
4	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
5	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
6	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:

Extended variants
information (count: 282 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:282 , 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	rs1405193	chr2:184938401-184938402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567601840	chr2:184938428-184938429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527514810	chr2:184938433-184938434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547202235	chr2:184938447-184938448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570281942	chr2:184938452-184938453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539161032	chr2:184938469-184938470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75223298	chr2:184938478-184938479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556181590	chr2:184938530-184938531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569589233	chr2:184938531-184938532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576538893	chr2:184938628-184938629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535427715	chr2:184938646-184938647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368372697	chr2:184938689-184938690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189776116	chr2:184938701-184938702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181321097	chr2:184938730-184938731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540895867	chr2:184938752-184938753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554430180	chr2:184938796-184938797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186386076	chr2:184938800-184938801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545992694	chr2:184938809-184938810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34524719	chr2:184938826-184938827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372309141	chr2:184938849-184938850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531658142	chr2:184938868-184938869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542188675	chr2:184938909-184938910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77874602	chr2:184938929-184938930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191631278	chr2:184938933-184938934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561356475	chr2:184938959-184938960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570320115	chr2:184938985-184938986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533140363	chr2:184938986-184938987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183829392	chr2:184939027-184939028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569710392	chr2:184939040-184939041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535137805	chr2:184939063-184939064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549015215	chr2:184939065-184939066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565651126	chr2:184939110-184939111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186752665	chr2:184939147-184939148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550401726	chr2:184939150-184939151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146230822	chr2:184939188-184939189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575133265	chr2:184939207-184939208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571843278	chr2:184939211-184939212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532711988	chr2:184939219-184939220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62175131	chr2:184939233-184939234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139412758	chr2:184939237-184939238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528727486	chr2:184939255-184939256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142370078	chr2:184939259-184939260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576468863	chr2:184939271-184939272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557482268	chr2:184939289-184939290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74321901	chr2:184939290-184939291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561747410	chr2:184939307-184939308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371751016	chr2:184939314-184939315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151040188	chr2:184939315-184939316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564035133	chr2:184939339-184939340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533007977	chr2:184939361-184939362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184937400-184945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:184941600-184943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:184943200-184943600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:184943200-184943600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:184943200-184943600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:184944400-184944600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:184945200-184946000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:184945600-184946000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:184945800-184946000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:184945800-184946200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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