Variant report

Variant	nsv1020849
Chromosome Location	chr5:93228065-93279216
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93236029..93238031-chr5:93238325..93240303,2	MCF-7	breast:
2	chr5:93222617..93225067-chr5:93227445..93229131,2	K562	blood:
3	chr5:93227743..93229810-chr5:93246414..93248576,2	K562	blood:
4	chr5:93259705..93262376-chr5:93294800..93297613,2	MCF-7	breast:
5	chr5:93275927..93276429-chr8:43092931..43093789,2	MCF-7	breast:
6	chr5:93244160..93246967-chr5:93249582..93251706,2	MCF-7	breast:
7	chr5:92917150..92917848-chr5:93250486..93251539,3	MCF-7	breast:
8	chr5:93250600..93251350-chr5:93422167..93422686,2	MCF-7	breast:
9	chr5:93241718..93244108-chr5:93244950..93247843,2	K562	blood:
10	chr5:93236029..93238031-chr5:93238325..93240303,2	MCF-7	breast:
11	chr5:93136887..93137720-chr5:93230421..93230931,2	MCF-7	breast:
12	chr5:93241718..93244108-chr5:93244950..93247843,2	K562	blood:
13	chr5:93227743..93229810-chr5:93246414..93248576,2	K562	blood:
14	chr5:93244160..93246967-chr5:93249582..93251706,2	MCF-7	breast:
15	chr5:93234352..93235271-chr5:93361511..93362065,2	MCF-7	breast:

No data

Extended variants
information (count: 1475 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1475 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528885056	chr5:93228147-93228148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535409508	chr5:93228264-93228265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190643461	chr5:93228292-93228293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182427310	chr5:93228294-93228295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569127076	chr5:93228298-93228299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538135132	chr5:93228301-93228302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558025374	chr5:93228310-93228311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577753586	chr5:93228467-93228468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546001141	chr5:93228485-93228486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553396601	chr5:93228540-93228541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573164346	chr5:93228543-93228544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541775240	chr5:93228667-93228668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561741147	chr5:93228741-93228742	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531147450	chr5:93228743-93228744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186061106	chr5:93228794-93228795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564550795	chr5:93228821-93228822	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533542973	chr5:93228845-93228846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144994556	chr5:93228870-93228871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559507841	chr5:93228884-93228885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs527860935	chr5:93228906-93228907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560155866	chr5:93228907-93228908	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs57013136	chr5:93228972-93228973	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528902394	chr5:93229040-93229041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148675958	chr5:93229073-93229074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190673611	chr5:93229104-93229105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144695888	chr5:93229176-93229177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551632280	chr5:93229182-93229183	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368169158	chr5:93229190-93229191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147912472	chr5:93229213-93229214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571043509	chr5:93229266-93229267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112486541	chr5:93229281-93229282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553195121	chr5:93229328-93229329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573330394	chr5:93229392-93229393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540165092	chr5:93229399-93229400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535543151	chr5:93229454-93229455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550874392	chr5:93229468-93229469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182847155	chr5:93229531-93229532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575211186	chr5:93229567-93229568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544528491	chr5:93229568-93229569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564769424	chr5:93229596-93229597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371134647	chr5:93229622-93229623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187141815	chr5:93229653-93229654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191516626	chr5:93229806-93229807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568908203	chr5:93229818-93229819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182838812	chr5:93229881-93229882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549901373	chr5:93229892-93229893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549084863	chr5:93229919-93229920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200042801	chr5:93230116-93230117	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187912920	chr5:93230124-93230125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79420978	chr5:93230126-93230127	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Esophageal adenocarcinoma	18519675	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93181400-93231200	Weak transcription	Adipose Nuclei	Adipose
2	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
3	chr5:93194400-93232800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:93210400-93232200	Weak transcription	Primary T cells from cord blood	blood
5	chr5:93213000-93256400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:93216600-93232000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:93218000-93230000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:93219800-93228800	Weak transcription	Psoas Muscle	Psoas
9	chr5:93223000-93229000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:93223000-93230200	Weak transcription	Ovary	ovary
11	chr5:93226000-93228200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:93226000-93229200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:93226200-93229200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:93226400-93228400	Enhancers	Fetal Lung	lung
15	chr5:93226400-93228600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:93226400-93229200	Enhancers	Brain Germinal Matrix	brain
17	chr5:93226600-93228600	Enhancers	HSMMtube	muscle
18	chr5:93226600-93229400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:93226800-93238000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:93227400-93228200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:93227400-93228200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:93227400-93228400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:93227400-93228600	Enhancers	Fetal Heart	heart
25	chr5:93227600-93229200	Enhancers	Fetal Brain Female	brain
26	chr5:93227800-93228200	Enhancers	HepG2	liver
27	chr5:93227800-93228800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:93227800-93229000	Weak transcription	Fetal Kidney	kidney
29	chr5:93227800-93230200	Weak transcription	Brain Substantia Nigra	brain
30	chr5:93228000-93230200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:93228000-93230200	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:93228200-93228800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:93228200-93229200	Enhancers	Fetal Brain Male	brain
35	chr5:93228200-93230600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:93228200-93231200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:93228400-93229200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:93228600-93230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:93228600-93230800	Weak transcription	HSMMtube	muscle
40	chr5:93228800-93229000	Weak transcription	Gastric	stomach
41	chr5:93228800-93229000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:93228800-93229200	Enhancers	Psoas Muscle	Psoas
43	chr5:93229000-93229200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:93229000-93229200	Enhancers	Fetal Kidney	kidney
45	chr5:93229000-93229200	Enhancers	Gastric	stomach
46	chr5:93229000-93231000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:93229200-93230200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:93229200-93230200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:93229200-93230200	Weak transcription	Brain Germinal Matrix	brain
50	chr5:93229200-93230200	Weak transcription	Fetal Brain Male	brain

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