Variant report

Variant	esv3432835
Chromosome Location	chr5:146621909-146624107
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	chr5:146617599..146619376-chr5:146621089..146623393,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146016204	chr5:146621935-146621936	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549140528	chr5:146621991-146621992	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7720349	chr5:146621992-146621993	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527991387	chr5:146622006-146622007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548140919	chr5:146622019-146622020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567934745	chr5:146622028-146622029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57237962	chr5:146622063-146622064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536892344	chr5:146622077-146622078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556783631	chr5:146622098-146622099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549394083	chr5:146622099-146622100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570056874	chr5:146622147-146622148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4705135	chr5:146622157-146622158	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35395100	chr5:146622189-146622190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113878514	chr5:146622206-146622207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4705136	chr5:146622232-146622233	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4705137	chr5:146622239-146622240	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554490482	chr5:146622258-146622259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111283131	chr5:146622318-146622319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4705138	chr5:146622321-146622322	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187436789	chr5:146622355-146622356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563095337	chr5:146622356-146622357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576885764	chr5:146622367-146622368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190628378	chr5:146622369-146622370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78737544	chr5:146622391-146622392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528115220	chr5:146622435-146622436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553487043	chr5:146622458-146622459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4705139	chr5:146622525-146622526	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542252945	chr5:146622559-146622560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376300281	chr5:146622734-146622735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182452133	chr5:146622761-146622762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558039074	chr5:146622787-146622788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576210299	chr5:146622789-146622790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550420265	chr5:146622863-146622864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62380968	chr5:146622882-146622883	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188160626	chr5:146622985-146622986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538844779	chr5:146623083-146623084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552668810	chr5:146623084-146623085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80236635	chr5:146623103-146623104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575848745	chr5:146623112-146623113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55986995	chr5:146623147-146623148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564540365	chr5:146623176-146623177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200722362	chr5:146623194-146623195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192688258	chr5:146623206-146623207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554503116	chr5:146623209-146623210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62380969	chr5:146623243-146623244	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182600674	chr5:146623245-146623246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375327162	chr5:146623302-146623303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377312425	chr5:146623310-146623311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556892504	chr5:146623311-146623312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139080593	chr5:146623312-146623313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Acute myeloid leukemia	16864856	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
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146616400-146628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:146619000-146624200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:146621600-146622000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:146621600-146622200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:146622200-146640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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