Variant report

Variant	nsv528930
Chromosome Location	chr2:187808330-187832004
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	chr2:187811925..187813493-chr2:187872646..187874696,2	K562	blood:

Extended variants
information (count: 704 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550649993	chr2:187809406-187809407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376699704	chr2:187809446-187809447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151231332	chr2:187809458-187809459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10469731	chr2:187809461-187809462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532383397	chr2:187809474-187809475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191224762	chr2:187809475-187809476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534229031	chr2:187809490-187809491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182627012	chr2:187809491-187809492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573891810	chr2:187809508-187809509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140401333	chr2:187809546-187809547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556605127	chr2:187809561-187809562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578045552	chr2:187809580-187809581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545359060	chr2:187809645-187809646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560491447	chr2:187809687-187809688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149923374	chr2:187809694-187809695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146486680	chr2:187809698-187809699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562011244	chr2:187809705-187809706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529065870	chr2:187809788-187809789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550539209	chr2:187809800-187809801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186724690	chr2:187809826-187809827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115093344	chr2:187809855-187809856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547337769	chr2:187809862-187809863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551325283	chr2:187809891-187809892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566116561	chr2:187809903-187809904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533571853	chr2:187809920-187809921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72899450	chr2:187809924-187809925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536064131	chr2:187809943-187809944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192356246	chr2:187809947-187809948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538395135	chr2:187809977-187809978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112990876	chr2:187810009-187810010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141276789	chr2:187810010-187810011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201994400	chr2:187810063-187810064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183180927	chr2:187810076-187810077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578024621	chr2:187810144-187810145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145075043	chr2:187810151-187810152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552394839	chr2:187810165-187810166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13008273	chr2:187810292-187810293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs72899454	chr2:187810341-187810342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187865840	chr2:187810345-187810346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372783055	chr2:187810362-187810363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573859855	chr2:187810421-187810422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372878986	chr2:187810445-187810446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201551126	chr2:187810453-187810454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397871219	chr2:187810467-187810468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562559355	chr2:187810472-187810473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533189202	chr2:187810480-187810481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7594512	chr2:187810559-187810560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559863682	chr2:187810600-187810601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527282418	chr2:187810611-187810612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148935706	chr2:187810694-187810695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Urothelial carcinoma	21177765	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187809400-187826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:187809600-187810000	Enhancers	K562	blood
3	chr2:187813000-187814000	Enhancers	Pancreas	Pancrea
4	chr2:187815400-187815600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:187815400-187815600	Enhancers	NH-A	brain
6	chr2:187815600-187816200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:187815800-187816400	Weak transcription	NH-A	brain
8	chr2:187816200-187816400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:187816200-187816400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:187816200-187816400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:187816200-187816400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:187816200-187816600	Active TSS	Right Ventricle	heart
13	chr2:187816200-187817000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:187816400-187816600	Active TSS	Primary hematopoietic stem cells	blood
15	chr2:187816400-187816600	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:187816400-187816600	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:187816400-187816600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:187816400-187816600	Active TSS	HUVEC	blood vessel
19	chr2:187816400-187816600	Active TSS	K562	blood
20	chr2:187816400-187816600	Enhancers	NH-A	brain
21	chr2:187816400-187816800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:187816400-187816800	Active TSS	Adipose Nuclei	Adipose
23	chr2:187816400-187816800	Active TSS	Colonic Mucosa	Colon
24	chr2:187816400-187816800	Active TSS	Placenta	Placenta
25	chr2:187816400-187816800	Active TSS	Right Atrium	heart
26	chr2:187816400-187816800	Active TSS	Hela-S3	cervix
27	chr2:187816400-187817000	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr2:187816400-187817000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:187816400-187817000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr2:187816400-187817000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:187816400-187817000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:187816400-187817000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:187816400-187817000	Active TSS	GM12878-XiMat	blood
34	chr2:187816400-187817000	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:187816400-187817200	Enhancers	Fetal Thymus	thymus
36	chr2:187816600-187816800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:187816600-187816800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr2:187816600-187816800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:187816600-187817000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:187816600-187817000	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:187816600-187817200	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:187816600-187817200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:187816600-187817200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:187816600-187817200	Enhancers	Liver	Liver
45	chr2:187816600-187817200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr2:187816600-187817200	Flanking Active TSS	HUVEC	blood vessel
47	chr2:187816600-187817200	Flanking Active TSS	K562	blood
48	chr2:187816600-187821200	Weak transcription	NH-A	brain
49	chr2:187816800-187817000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:187816800-187817000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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