Variant report

Variant	nsv1032191
Chromosome Location	chr5:100455166-100852106
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
2	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:
3	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
4	chr11:45378931..45379643-chr5:100700753..100701279,2	MCF-7	breast:
5	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
6	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
7	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:
8	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
9	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:
10	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
11	chr5:100532253..100534040-chr5:100535262..100538054,2	K562	blood:
12	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
13	chr5:100801149..100803807-chr5:101019076..101021697,2	K562	blood:
14	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
15	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
16	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
17	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:
18	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:
19	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:
20	chr5:100532253..100534040-chr5:100535262..100538054,2	K562	blood:
21	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:
22	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:
23	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:

No data

Extended variants
information (count: 5001 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:5001 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4702996	chr5:100471034-100471035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189258254	chr5:100471055-100471056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544516434	chr5:100471056-100471057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556535053	chr5:100471149-100471150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575001142	chr5:100471171-100471172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542024370	chr5:100471194-100471195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560228785	chr5:100471212-100471213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562781650	chr5:100471230-100471231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140925778	chr5:100471243-100471244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545862360	chr5:100471282-100471283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182007062	chr5:100471287-100471288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531285569	chr5:100471379-100471380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185859472	chr5:100471384-100471385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561799394	chr5:100471388-100471389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529117982	chr5:100471392-100471393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547252199	chr5:100471435-100471436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575336225	chr5:100471453-100471454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377726831	chr5:100471455-100471456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534017280	chr5:100471467-100471468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552214819	chr5:100471489-100471490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533307293	chr5:100471535-100471536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545297741	chr5:100471561-100471562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114218800	chr5:100471575-100471576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556834103	chr5:100471585-100471586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575018378	chr5:100471588-100471589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560383808	chr5:100471597-100471598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536076586	chr5:100471658-100471659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114878029	chr5:100471775-100471776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80124422	chr5:100471783-100471784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371408085	chr5:100471806-100471807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191596663	chr5:100471809-100471810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145089208	chr5:100471846-100471847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576121725	chr5:100471855-100471856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546309587	chr5:100471878-100471879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558524951	chr5:100471882-100471883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181124807	chr5:100471898-100471899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543034929	chr5:100471922-100471923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13175537	chr5:100471926-100471927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186406967	chr5:100471993-100471994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78379816	chr5:100472016-100472017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190931677	chr5:100472018-100472019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532917500	chr5:100472042-100472043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376177181	chr5:100472090-100472091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138979691	chr5:100472091-100472092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540457529	chr5:100472109-100472110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550656876	chr5:100472159-100472160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73780213	chr5:100472203-100472204	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs373663866	chr5:100472228-100472229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12188920	chr5:100472284-100472285	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182201760	chr5:100472299-100472300	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Prostate cancer	19363497	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100471000-100471400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:100471000-100471600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:100471200-100471800	Enhancers	A549	lung
4	chr5:100471800-100472200	Weak transcription	A549	lung
5	chr5:100472200-100472400	Active TSS	A549	lung
6	chr5:100472400-100472600	Flanking Active TSS	A549	lung
7	chr5:100494400-100496600	Enhancers	Brain Hippocampus Middle	brain
8	chr5:100495600-100495800	Enhancers	Brain Angular Gyrus	brain
9	chr5:100495600-100496000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:100498800-100499000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:100498800-100499200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:100499000-100499400	Enhancers	Dnd41	blood
13	chr5:100503800-100506000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100506000-100506200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:100512200-100513400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100512600-100512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:100514200-100515000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:100514800-100515600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:100515600-100516000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:100523400-100523600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:100535000-100535400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:100540400-100541600	Enhancers	Dnd41	blood
23	chr5:100542200-100542600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:100542200-100542800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:100542800-100543800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:100543600-100548800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:100543800-100545600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:100544000-100545000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:100545200-100546200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:100548600-100548800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr5:100548600-100548800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:100548600-100550000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:100548800-100549000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:100548800-100549000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:100548800-100549400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:100548800-100549600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr5:100548800-100549600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:100548800-100549600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:100548800-100549800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:100548800-100550000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:100548800-100550200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:100549000-100549800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:100549600-100550000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:100549600-100552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:100549800-100552800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:100550000-100552400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:100550200-100552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:100552400-100553400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:100552800-100553200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:100552800-100553400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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