Variant report

Variant	esv12787
Chromosome Location	chr5:177521630-177524115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177516313..177518533-chr5:177518658..177522708,4	MCF-7	breast:
2	chr5:177503413..177514913-chr5:177516551..177522941,24	MCF-7	breast:
3	chr5:177518051..177521986-chr5:177526387..177530024,4	MCF-7	breast:
4	chr5:177509207..177514197-chr5:177523151..177527432,6	MCF-7	breast:
5	chr5:177519806..177521961-chr5:177524247..177526841,2	K562	blood:

Extended variants
information (count: 255 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546374687	chr5:177521636-177521637	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370974298	chr5:177521643-177521644	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572003159	chr5:177521647-177521648	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564523524	chr5:177521659-177521660	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138373399	chr5:177521689-177521690	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375782915	chr5:177521709-177521710	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190825620	chr5:177521712-177521713	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142403313	chr5:177521729-177521730	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528827724	chr5:177521746-177521747	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146581921	chr5:177521777-177521778	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565596900	chr5:177521873-177521874	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138681529	chr5:177521921-177521922	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377712644	chr5:177521922-177521923	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76378686	chr5:177521939-177521940	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569739652	chr5:177522022-177522023	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34015040	chr5:177522031-177522032	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556356215	chr5:177522044-177522045	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575001781	chr5:177522047-177522048	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535808907	chr5:177522057-177522058	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11249791	chr5:177522062-177522063	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550482421	chr5:177522066-177522067	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566060698	chr5:177522081-177522082	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79933901	chr5:177522119-177522120	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572522772	chr5:177522157-177522158	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112720038	chr5:177522162-177522163	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57979415	chr5:177522167-177522168	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71593910	chr5:177522172-177522173	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11948032	chr5:177522176-177522177	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200944062	chr5:177522187-177522188	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112646062	chr5:177522190-177522191	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112062114	chr5:177522205-177522206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112798435	chr5:177522210-177522211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11952670	chr5:177522215-177522216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12152930	chr5:177522233-177522234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12152724	chr5:177522248-177522249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12152931	chr5:177522253-177522254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12187035	chr5:177522265-177522266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79739835	chr5:177522269-177522270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62390539	chr5:177522272-177522273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12187025	chr5:177522276-177522277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62390540	chr5:177522277-177522278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62390541	chr5:177522281-177522282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28553407	chr5:177522291-177522292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113337922	chr5:177522296-177522297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12187032	chr5:177522301-177522302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75818179	chr5:177522305-177522306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28562596	chr5:177522308-177522309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113036370	chr5:177522319-177522320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113502038	chr5:177522334-177522335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112900362	chr5:177522339-177522340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177513600-177526400	Weak transcription	Gastric	stomach
2	chr5:177519600-177522000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr5:177519600-177522200	Enhancers	Fetal Thymus	thymus
4	chr5:177519800-177522200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:177520200-177522000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:177520200-177522000	Enhancers	Thymus	Thymus
7	chr5:177520200-177522200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:177521000-177521800	Enhancers	Primary B cells from cord blood	blood
9	chr5:177521000-177522000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:177521000-177522000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:177521000-177522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:177521000-177522000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:177521000-177522000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:177521000-177522200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:177521200-177522000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:177521200-177522000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:177521400-177521800	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:177521400-177521800	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:177521400-177521800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:177521400-177521800	Enhancers	Fetal Muscle Trunk	muscle
21	chr5:177521400-177522000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:177521600-177521800	Enhancers	Primary T cells from cord blood	blood
23	chr5:177521600-177522200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr5:177521800-177522000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr5:177522000-177522200	Enhancers	Primary T cells from cord blood	blood

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