Variant report

Variant	nsv961908
Chromosome Location	chr2:173029408-173031516
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	chr2:173021199..173024661-chr2:173027995..173030782,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199992675	chr2:173029423-173029424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547340778	chr2:173029450-173029451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35374343	chr2:173029458-173029459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565647435	chr2:173029482-173029483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147244134	chr2:173029484-173029485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372026542	chr2:173029502-173029503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140857291	chr2:173029549-173029550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73014653	chr2:173029551-173029552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192543690	chr2:173029625-173029626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574124144	chr2:173029653-173029654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184420531	chr2:173029658-173029659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149794849	chr2:173029686-173029687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559753279	chr2:173029687-173029688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35494826	chr2:173029693-173029694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578250280	chr2:173029708-173029709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188161635	chr2:173029719-173029720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563659835	chr2:173029741-173029742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528174651	chr2:173029751-173029752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531472283	chr2:173029783-173029784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75459842	chr2:173029805-173029806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374127154	chr2:173029811-173029812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549183804	chr2:173029812-173029813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561452849	chr2:173029817-173029818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2171320	chr2:173029863-173029864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547572409	chr2:173029866-173029867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7597490	chr2:173029880-173029881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536897636	chr2:173029882-173029883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373322894	chr2:173029904-173029905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77375152	chr2:173029905-173029906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569287210	chr2:173029942-173029943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148461913	chr2:173029949-173029950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570668740	chr2:173029961-173029962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55814358	chr2:173029968-173029969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191598253	chr2:173029985-173029986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79871038	chr2:173029993-173029994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370073859	chr2:173029995-173029996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372617920	chr2:173030020-173030021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539003785	chr2:173030023-173030024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3030438	chr2:173030041-173030042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143916810	chr2:173030042-173030043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397870623	chr2:173030044-173030045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112218315	chr2:173030193-173030194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112802972	chr2:173030200-173030201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113416815	chr2:173030203-173030204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61538617	chr2:173030247-173030248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553599841	chr2:173030359-173030360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10191449	chr2:173030414-173030415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs545697164	chr2:173030476-173030477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557711821	chr2:173030503-173030504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548237234	chr2:173030534-173030535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173026400-173037400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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