Variant report

Variant	nsv979321
Chromosome Location	chr2:209812866-209818372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209812335..209815569-chr2:209817541..209819939,3	K562	blood:
2	chr2:209812335..209815569-chr2:209817541..209819939,3	K562	blood:
3	chr14:35871895..35874514-chr2:209813053..209815849,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564105540	chr2:209812898-209812899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116271638	chr2:209812933-209812934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141827618	chr2:209812945-209812946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56093743	chr2:209812960-209812961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16842022	chr2:209812963-209812964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6748608	chr2:209812966-209812967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139765222	chr2:209813027-209813028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191141632	chr2:209813028-209813029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116024154	chr2:209813037-209813038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182389443	chr2:209813082-209813083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537019352	chr2:209813122-209813123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556058470	chr2:209813131-209813132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569565775	chr2:209813148-209813149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13417360	chr2:209813204-209813205	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78523726	chr2:209813205-209813206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572092877	chr2:209813209-209813210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541098898	chr2:209813225-209813226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13391815	chr2:209813236-209813237	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534750103	chr2:209813273-209813274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs16842024	chr2:209813278-209813279	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10497915	chr2:209813330-209813331	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs16842028	chr2:209813344-209813345	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529603308	chr2:209813360-209813361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189602644	chr2:209813374-209813375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182314224	chr2:209813400-209813401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs16842029	chr2:209813457-209813458	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551870547	chr2:209813469-209813470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368375882	chr2:209813486-209813487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200094867	chr2:209813496-209813497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372311068	chr2:209813521-209813522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374472579	chr2:209813549-209813550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149788113	chr2:209813623-209813624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550518344	chr2:209813655-209813656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569652590	chr2:209813692-209813693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187682146	chr2:209813696-209813697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548792627	chr2:209813710-209813711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565851788	chr2:209813721-209813722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536429379	chr2:209813741-209813742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs193300923	chr2:209813786-209813787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541588393	chr2:209813808-209813809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557855888	chr2:209813849-209813850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35245441	chr2:209813894-209813895	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530795442	chr2:209813899-209813900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs16842030	chr2:209813905-209813906	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147511630	chr2:209813954-209813955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375485677	chr2:209813961-209813962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10497916	chr2:209813987-209813988	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368549630	chr2:209813990-209813991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559763635	chr2:209814016-209814017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35179183	chr2:209814050-209814051	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209811600-209818400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:209815000-209816000	Enhancers	Pancreatic Islets	Pancreatic Islet

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