Variant report

Variant	esv3412777
Chromosome Location	chr5:49519095-49526893
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	chr5:49522747..49523250-chr9:66823014..66823516,2	MCF-7	breast:
2	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:

Extended variants
information (count: 848 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527834291	chr5:49519801-49519802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574890039	chr5:49519803-49519804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186969780	chr5:49519828-49519829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200057221	chr5:49519843-49519844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74475656	chr5:49519847-49519848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78633140	chr5:49519853-49519854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552678740	chr5:49519896-49519897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111906084	chr5:49519914-49519915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77699924	chr5:49519921-49519922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530298871	chr5:49519943-49519944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560590841	chr5:49519955-49519956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532156958	chr5:49519967-49519968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564503408	chr5:49519970-49519971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545461926	chr5:49519972-49519973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562279964	chr5:49519991-49519992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531300247	chr5:49519999-49520000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148562422	chr5:49520000-49520001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116237752	chr5:49520016-49520017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527459156	chr5:49520022-49520023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144842501	chr5:49520038-49520039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201980741	chr5:49520040-49520041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200442725	chr5:49520048-49520049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116610596	chr5:49520065-49520066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372823168	chr5:49520070-49520071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570632303	chr5:49520091-49520092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376541746	chr5:49520109-49520110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190944798	chr5:49520114-49520115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538653067	chr5:49520122-49520123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568615337	chr5:49520140-49520141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538346454	chr5:49520141-49520142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555060926	chr5:49520149-49520150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530430	chr5:49520154-49520155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs112591622	chr5:49520182-49520183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531198	chr5:49520185-49520186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs554551587	chr5:49520195-49520196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577454912	chr5:49520233-49520234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565931523	chr5:49520250-49520251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113061084	chr5:49520265-49520266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201268013	chr5:49520272-49520273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113641029	chr5:49520277-49520278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76101372	chr5:49520291-49520292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146179603	chr5:49520293-49520294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575588918	chr5:49520300-49520301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143699223	chr5:49520303-49520304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200483309	chr5:49520313-49520314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201778621	chr5:49520322-49520323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372172119	chr5:49520335-49520336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375490763	chr5:49520336-49520337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369688000	chr5:49520347-49520348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199501647	chr5:49520355-49520356	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49519800-49524200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:49520600-49520800	Weak transcription	Psoas Muscle	Psoas
3	chr5:49520600-49525000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:49520600-49526200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:49520600-49527000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr5:49520800-49521800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr5:49520800-49521800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr5:49520800-49526000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr5:49521000-49521200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:49521000-49521200	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr5:49521000-49521200	ZNF genes & repeats	Fetal Brain Male	brain
12	chr5:49521000-49521400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:49523000-49523600	ZNF genes & repeats	HUVEC	blood vessel
14	chr5:49526400-49526800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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