Variant report

Variant	esv3404839
Chromosome Location	chr2:182152957-182154605
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	chr2:182152430..182154076-chr2:182155913..182157660,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183410831	chr2:182152979-182152980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577788086	chr2:182153004-182153005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372316469	chr2:182153005-182153006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187772803	chr2:182153009-182153010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192260893	chr2:182153011-182153012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184465860	chr2:182153014-182153015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561946672	chr2:182153099-182153100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76091616	chr2:182153128-182153129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547366741	chr2:182153167-182153168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189997996	chr2:182153259-182153260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539513803	chr2:182153260-182153261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28716233	chr2:182153288-182153289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192694658	chr2:182153292-182153293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535784623	chr2:182153293-182153294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199992479	chr2:182153318-182153319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369428437	chr2:182153324-182153325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372940120	chr2:182153365-182153366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556067336	chr2:182153594-182153595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568546798	chr2:182153609-182153610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577571504	chr2:182153628-182153629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111215197	chr2:182153632-182153633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374696179	chr2:182153653-182153654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572645242	chr2:182153682-182153683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534630442	chr2:182153688-182153689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557769026	chr2:182153690-182153691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574541348	chr2:182153698-182153699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577826778	chr2:182153699-182153700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201348662	chr2:182153731-182153732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199560302	chr2:182153814-182153815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543515667	chr2:182153832-182153833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146184978	chr2:182153860-182153861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573738187	chr2:182153916-182153917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546383581	chr2:182153922-182153923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542455870	chr2:182153925-182153926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559628759	chr2:182153950-182153951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374311901	chr2:182154017-182154018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114076864	chr2:182154026-182154027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559550497	chr2:182154075-182154076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9630987	chr2:182154171-182154172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184688524	chr2:182154186-182154187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79236990	chr2:182154193-182154194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564114602	chr2:182154205-182154206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189208436	chr2:182154215-182154216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549825316	chr2:182154238-182154239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180720180	chr2:182154262-182154263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541969564	chr2:182154319-182154320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112435694	chr2:182154322-182154323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139147112	chr2:182154350-182154351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186358020	chr2:182154371-182154372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566395910	chr2:182154404-182154405	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
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
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182147000-182153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:182147000-182153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:182147000-182159400	Weak transcription	Thymus	Thymus
4	chr2:182147000-182160000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:182147800-182158200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:182148000-182159600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:182148400-182159800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:182150200-182158400	Weak transcription	Dnd41	blood
9	chr2:182150400-182158400	Weak transcription	Primary T cells from cord blood	blood
10	chr2:182152600-182153000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:182153000-182153200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:182153000-182153200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:182153000-182164000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:182153800-182159200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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