Variant report

Variant	nsv882844
Chromosome Location	chr5:128325025-128377555
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:128372433..128375040-chr5:128377244..128379501,2	K562	blood:
2	chr5:128373872..128376064-chr5:128416925..128419708,2	K562	blood:
3	chr5:128335262..128337541-chr5:128469535..128471381,2	K562	blood:
4	chr5:128362321..128365288-chr5:128368258..128370064,2	K562	blood:
5	chr5:128327480..128330043-chr5:128331168..128333231,2	K562	blood:
6	chr5:128327480..128330043-chr5:128331168..128333231,2	K562	blood:
7	chr5:128372433..128375040-chr5:128377244..128379501,2	K562	blood:
8	chr5:128362321..128365288-chr5:128368258..128370064,2	K562	blood:
9	chr5:128374716..128377353-chr5:128379908..128382793,2	K562	blood:
10	chr5:128334295..128337083-chr5:128436010..128438834,2	K562	blood:

No data

Extended variants
information (count: 2128 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2128 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7730969	chr5:128325025-128325026	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566419429	chr5:128325030-128325031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371562919	chr5:128325053-128325054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528046909	chr5:128325055-128325056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532759043	chr5:128325089-128325090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371482860	chr5:128325134-128325135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552764733	chr5:128325168-128325169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3932768	chr5:128325184-128325185	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545328080	chr5:128325191-128325192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11749027	chr5:128325208-128325209	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554943536	chr5:128325277-128325278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190787401	chr5:128325284-128325285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530655028	chr5:128325295-128325296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550889448	chr5:128325324-128325325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182896752	chr5:128325340-128325341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188499574	chr5:128325343-128325344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576879935	chr5:128325366-128325367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376937243	chr5:128325397-128325398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11742560	chr5:128325399-128325400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575089691	chr5:128325433-128325434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377086229	chr5:128325434-128325435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544125417	chr5:128325464-128325465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192883868	chr5:128325489-128325490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561007060	chr5:128325506-128325507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113148221	chr5:128325566-128325567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546841685	chr5:128325608-128325609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373656629	chr5:128325616-128325617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11415836	chr5:128325633-128325634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560204573	chr5:128325679-128325680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369733836	chr5:128325738-128325739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552300951	chr5:128325754-128325755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563103239	chr5:128325784-128325785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531927388	chr5:128325807-128325808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374118900	chr5:128325864-128325865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138648292	chr5:128325865-128325866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534200338	chr5:128325919-128325920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376601259	chr5:128325936-128325937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547433786	chr5:128325964-128325965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112293086	chr5:128325983-128325984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376925018	chr5:128326029-128326030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199877686	chr5:128326036-128326037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370024334	chr5:128326040-128326041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61744876	chr5:128326067-128326068	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183450464	chr5:128326071-128326072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575128927	chr5:128326073-128326074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61744871	chr5:128326090-128326091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147964184	chr5:128326103-128326104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200654771	chr5:128326134-128326135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201547629	chr5:128326138-128326139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386692315	chr5:128326165-128326166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128309600-128338200	Weak transcription	Left Ventricle	heart
2	chr5:128320800-128328000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:128321000-128335000	Weak transcription	Fetal Heart	heart
4	chr5:128324200-128327000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:128325000-128326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:128326400-128326600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:128326400-128326800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:128326600-128335000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:128326800-128327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:128327000-128327400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:128327000-128328200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:128327400-128327800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:128327800-128328000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:128327800-128328200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:128328000-128329000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr5:128328200-128328600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:128328600-128330000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:128329000-128372000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:128330000-128330200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:128330000-128332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:128330200-128330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:128330400-128330800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:128330800-128331000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:128330800-128331400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:128332600-128336400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:128333800-128334000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:128334000-128338200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:128335000-128335600	Strong transcription	Fetal Heart	heart
29	chr5:128335400-128335600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:128335600-128338000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:128335600-128339200	Genic enhancers	Fetal Heart	heart
32	chr5:128336400-128336800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:128336400-128338800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:128336800-128337200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:128336800-128339200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:128336800-128339200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:128337200-128338000	Enhancers	Brain Anterior Caudate	brain
38	chr5:128337200-128338400	Enhancers	Brain Hippocampus Middle	brain
39	chr5:128337200-128338400	Enhancers	Brain Substantia Nigra	brain
40	chr5:128337200-128339000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:128337400-128339000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:128337600-128338200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:128337600-128338800	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:128337600-128339000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:128337600-128339000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:128337800-128338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:128337800-128339000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:128337800-128339000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:128338000-128338400	Weak transcription	Brain Anterior Caudate	brain
50	chr5:128338000-128338800	Enhancers	Cortex derived primary cultured neurospheres	brain

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