Variant report

Variant	esv3379767
Chromosome Location	chr5:147591284-147593607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:147589078..147591564-chr5:147592751..147595184,2	K562	blood:
2	chr5:147585588..147588520-chr5:147590065..147592405,2	MCF-7	breast:
3	chr5:147589078..147591564-chr5:147592751..147595184,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141018567	chr5:147591308-147591309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571750820	chr5:147591373-147591374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539220772	chr5:147591382-147591383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150244077	chr5:147591421-147591422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569185528	chr5:147591423-147591424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183797862	chr5:147591474-147591475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371253076	chr5:147591504-147591505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78661346	chr5:147591513-147591514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573538514	chr5:147591564-147591565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542581479	chr5:147591576-147591577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551471321	chr5:147591595-147591596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148721644	chr5:147591649-147591650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112090003	chr5:147591650-147591651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67998035	chr5:147591651-147591652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59328648	chr5:147591652-147591653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540770367	chr5:147591735-147591736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531220568	chr5:147591753-147591754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577798931	chr5:147591809-147591810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545210458	chr5:147591813-147591814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551240531	chr5:147591843-147591844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76997253	chr5:147591859-147591860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530850657	chr5:147591875-147591876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542910690	chr5:147591921-147591922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535455381	chr5:147591980-147591981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80163040	chr5:147591996-147591997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189247188	chr5:147592015-147592016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7725752	chr5:147592043-147592044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201941959	chr5:147592044-147592045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374118313	chr5:147592049-147592050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370324449	chr5:147592051-147592052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200014205	chr5:147592061-147592062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12653629	chr5:147592070-147592071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12654118	chr5:147592073-147592074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377611028	chr5:147592100-147592101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369231333	chr5:147592102-147592103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375371780	chr5:147592108-147592109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13174067	chr5:147592110-147592111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13174068	chr5:147592111-147592112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372767907	chr5:147592113-147592114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377041959	chr5:147592126-147592127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10038194	chr5:147592127-147592128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13170156	chr5:147592128-147592129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10038197	chr5:147592154-147592155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12654120	chr5:147592155-147592156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10037612	chr5:147592162-147592163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10038198	chr5:147592163-147592164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13170280	chr5:147592169-147592170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558198501	chr5:147592178-147592179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13170295	chr5:147592191-147592192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184757396	chr5:147592192-147592193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147588200-147593200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147589600-147594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:147593200-147595600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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