Variant report

Variant	nsv970017
Chromosome Location	chr5:105550634-105572906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:105429270..105430863-chr5:105571173..105574118,2	MCF-7	breast:
2	chr5:105566807..105568970-chr5:105570154..105572367,2	MCF-7	breast:
3	chr5:105566807..105568970-chr5:105570154..105572367,2	MCF-7	breast:
4	chr5:105550366..105552810-chr5:105553435..105555882,2	K562	blood:
5	chr5:105550366..105552810-chr5:105553435..105555882,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFNA5-9	chr5:105567246-105567371	l_2990_chr5:105567245-105568900_testes
2	lnc-EFNA5-9	chr5:105568820-105568900	l_2990_chr5:105567245-105568900_testes

No data

Extended variants
information (count: 567 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573082129	chr5:105550665-105550666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386690793	chr5:105550668-105550669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143439827	chr5:105550672-105550673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575636802	chr5:105550678-105550679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76996077	chr5:105550726-105550727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563549523	chr5:105550753-105550754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188442983	chr5:105550754-105550755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200915856	chr5:105550810-105550811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181263238	chr5:105550879-105550880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186476427	chr5:105550886-105550887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528655217	chr5:105550895-105550896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191766207	chr5:105550911-105550912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183295177	chr5:105550933-105550934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187042834	chr5:105550967-105550968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550521522	chr5:105550970-105550971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540463136	chr5:105551002-105551003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536302100	chr5:105551041-105551042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546368679	chr5:105551042-105551043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578110901	chr5:105551136-105551137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112679042	chr5:105551153-105551154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566617397	chr5:105551162-105551163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538813261	chr5:105551163-105551164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558820487	chr5:105551177-105551178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141992484	chr5:105551290-105551291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111379538	chr5:105551303-105551304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183283057	chr5:105551315-105551316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573960424	chr5:105551338-105551339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543050975	chr5:105551422-105551423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75793381	chr5:105551432-105551433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573029961	chr5:105551446-105551447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529891361	chr5:105551535-105551536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386690794	chr5:105551546-105551547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545183324	chr5:105551554-105551555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78503536	chr5:105551574-105551575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113686455	chr5:105551615-105551616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372944420	chr5:105551636-105551637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531061664	chr5:105551656-105551657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74766363	chr5:105551716-105551717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11302330	chr5:105551717-105551718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79138454	chr5:105551718-105551719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113086710	chr5:105551729-105551730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80064216	chr5:105551730-105551731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550997918	chr5:105551748-105551749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12719552	chr5:105551761-105551762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs62377596	chr5:105551793-105551794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143183719	chr5:105551863-105551864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563174473	chr5:105551886-105551887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147511648	chr5:105551926-105551927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561807466	chr5:105551976-105551977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199629685	chr5:105551988-105551989	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105548000-105551400	Weak transcription	Stomach Mucosa	stomach
2	chr5:105551400-105553400	Enhancers	Stomach Mucosa	stomach
3	chr5:105553400-105553600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:105553600-105563800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:105569600-105570000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:105570000-105571200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:105571400-105571600	Enhancers	HUES48 Cell Line	embryonic stem cell

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