Variant report

Variant	nsv523717
Chromosome Location	chr2:171719565-171722926
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	chr2:171721677..171726010-chr2:171731476..171734906,5	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4439928	chr2:171719565-171719566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533514048	chr2:171719584-171719585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548258243	chr2:171719602-171719603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12472230	chr2:171719628-171719629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367662136	chr2:171719654-171719655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75443830	chr2:171719678-171719679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549432884	chr2:171719696-171719697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567903734	chr2:171719700-171719701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201081419	chr2:171719708-171719709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558814799	chr2:171719709-171719710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77999238	chr2:171719743-171719744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142681058	chr2:171719765-171719766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565331687	chr2:171719766-171719767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571416850	chr2:171719768-171719769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534851609	chr2:171719805-171719806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551440070	chr2:171719817-171719818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117210665	chr2:171719831-171719832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10930443	chr2:171719836-171719837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189784988	chr2:171719847-171719848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35072833	chr2:171719859-171719860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547073555	chr2:171719887-171719888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181401455	chr2:171719921-171719922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184605424	chr2:171719964-171719965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78955730	chr2:171719966-171719967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189542944	chr2:171719969-171719970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76876738	chr2:171720013-171720014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180760446	chr2:171720047-171720048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543167098	chr2:171720064-171720065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561315994	chr2:171720132-171720133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146433792	chr2:171720163-171720164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546866227	chr2:171720180-171720181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139802127	chr2:171720207-171720208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73025207	chr2:171720224-171720225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376434624	chr2:171720274-171720275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535867882	chr2:171720313-171720314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553177786	chr2:171720407-171720408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112364931	chr2:171720413-171720414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536861266	chr2:171720439-171720440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549208960	chr2:171720577-171720578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567449087	chr2:171720597-171720598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13406480	chr2:171720620-171720621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553273311	chr2:171720623-171720624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578086395	chr2:171720645-171720646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563537640	chr2:171720669-171720670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146317519	chr2:171720671-171720672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74603477	chr2:171720673-171720674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370853917	chr2:171720682-171720683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571542510	chr2:171720729-171720730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574522771	chr2:171720787-171720788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186396646	chr2:171720849-171720850	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171699000-171730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:171705200-171725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:171710400-171725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:171713800-171724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:171717000-171729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:171718200-171719600	Enhancers	K562	blood
7	chr2:171718200-171729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:171718400-171729200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:171718600-171729400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:171718600-171729600	Weak transcription	Right Atrium	heart
11	chr2:171719400-171720400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:171720400-171720600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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