Variant report

Variant	esv3444248
Chromosome Location	chr5:147094808-147116217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:147103170..147104982-chr5:147106913..147109194,2	K562	blood:
2	chr5:147005432..147007989-chr5:147101707..147104266,2	MCF-7	breast:
3	chr5:147099945..147101647-chr5:147104037..147106360,3	MCF-7	breast:
4	chr5:147084806..147087752-chr5:147100752..147102647,2	MCF-7	breast:
5	chr5:147099945..147101647-chr5:147104037..147106360,3	MCF-7	breast:
6	chr5:147103170..147104982-chr5:147106913..147109194,2	K562	blood:

Extended variants
information (count: 676 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199725316	chr5:147094814-147094815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78375177	chr5:147094840-147094841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376400682	chr5:147094875-147094876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550026322	chr5:147094889-147094890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561804141	chr5:147094895-147094896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10037768	chr5:147094964-147094965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs199632904	chr5:147095001-147095002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547710275	chr5:147095017-147095018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565938181	chr5:147095050-147095051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539824858	chr5:147095057-147095058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534682044	chr5:147095092-147095093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557788261	chr5:147095094-147095095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576143170	chr5:147095102-147095103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186803971	chr5:147095164-147095165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527422438	chr5:147095167-147095168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574208747	chr5:147095177-147095178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189732099	chr5:147095300-147095301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181182338	chr5:147095339-147095340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571909381	chr5:147095374-147095375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79353220	chr5:147095395-147095396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11312315	chr5:147095409-147095410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs63203160	chr5:147095418-147095419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75165719	chr5:147095420-147095421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545831908	chr5:147095476-147095477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565891609	chr5:147095477-147095478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113162235	chr5:147095480-147095481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138368413	chr5:147095493-147095494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10043862	chr5:147095500-147095501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561724041	chr5:147095535-147095536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111476885	chr5:147095543-147095544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6892231	chr5:147095557-147095558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6876960	chr5:147095558-147095559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370774569	chr5:147095592-147095593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529135119	chr5:147095615-147095616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9765209	chr5:147095636-147095637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9764732	chr5:147095649-147095650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539413404	chr5:147095673-147095674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551383170	chr5:147095680-147095681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569742647	chr5:147095717-147095718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71592200	chr5:147096217-147096218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200207358	chr5:147096281-147096282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6650978	chr5:147096349-147096350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201616631	chr5:147096739-147096740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550209712	chr5:147097128-147097129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199777031	chr5:147097301-147097302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376284081	chr5:147097346-147097347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368473494	chr5:147097386-147097387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372137089	chr5:147097416-147097417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143096004	chr5:147097553-147097554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375144325	chr5:147097688-147097689	Weak 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
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
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147079600-147101200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:147101000-147101600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:147101000-147106200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:147101200-147101600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr5:147101200-147101600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr5:147101200-147101600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:147101200-147101600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:147101200-147101600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:147101200-147101800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:147101200-147101800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:147101200-147101800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr5:147101200-147101800	Active TSS	Placenta	Placenta
14	chr5:147101200-147102000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:147101200-147102000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:147101200-147102200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:147101200-147102200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:147101400-147102000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:147101400-147102000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:147101600-147101800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
21	chr5:147101600-147102000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:147101600-147102000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:147101600-147102200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:147101600-147102200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr5:147101600-147114400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:147101800-147102000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr5:147101800-147102000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:147101800-147105000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:147101800-147109800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:147102000-147102200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:147102000-147102400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:147102000-147105600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:147102000-147109400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:147102000-147109600	Weak transcription	Brain Germinal Matrix	brain
35	chr5:147102000-147111600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:147102000-147112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:147102200-147102600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:147102200-147114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:147102600-147111600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:147103200-147103600	Enhancers	Brain Angular Gyrus	brain
41	chr5:147103200-147103600	Enhancers	Brain Hippocampus Middle	brain
42	chr5:147103600-147110400	Weak transcription	Brain Angular Gyrus	brain
43	chr5:147103600-147110400	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:147103600-147111600	Weak transcription	Fetal Brain Female	brain
45	chr5:147103600-147121800	Weak transcription	Fetal Brain Male	brain
46	chr5:147105000-147105600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr5:147105600-147106000	Enhancers	Brain Substantia Nigra	brain
48	chr5:147105600-147106600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:147105600-147107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:147105600-147109600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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