Variant report

Variant	nsv980959
Chromosome Location	chr5:108023194-108043010
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	chr5:108034866..108037044-chr5:108060697..108062781,2	K562	blood:
2	chr5:108030603..108033553-chr5:108084188..108085925,2	MCF-7	breast:
3	chr5:108042972..108045365-chr5:108054174..108056977,2	K562	blood:
4	chr17:57913836..57916578-chr5:108041981..108044675,2	MCF-7	breast:
5	chr5:108023680..108026535-chr5:108082571..108085038,2	K562	blood:
6	chr5:108027849..108029832-chr5:108036074..108038370,2	K562	blood:
7	chr5:108032636..108035213-chr5:108063314..108064932,2	K562	blood:
8	chr5:108035034..108037083-chr5:108044178..108046142,2	MCF-7	breast:
9	chr5:108021801..108024411-chr5:108062186..108064628,3	MCF-7	breast:
10	chr5:108027849..108029832-chr5:108036074..108038370,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions
ENSG00000151422	chromatin interactions
ENSG00000272523	chromatin interactions

Extended variants
information (count: 621 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73780541	chr5:108023197-108023198	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186114495	chr5:108023209-108023210	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116154759	chr5:108023211-108023212	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566436695	chr5:108023216-108023217	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557317355	chr5:108023250-108023251	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74376574	chr5:108023259-108023260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558388875	chr5:108023287-108023288	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553091065	chr5:108023343-108023344	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10055749	chr5:108023365-108023366	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34035452	chr5:108023403-108023404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs398050652	chr5:108023415-108023416	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374521704	chr5:108023428-108023429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557625987	chr5:108023443-108023444	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575065118	chr5:108023466-108023467	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375920824	chr5:108023487-108023488	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543132814	chr5:108023492-108023493	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559611978	chr5:108023502-108023503	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566017653	chr5:108023513-108023514	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528447141	chr5:108023590-108023591	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190534753	chr5:108023647-108023648	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564835337	chr5:108023650-108023651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530755492	chr5:108023651-108023652	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73220143	chr5:108023686-108023687	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564473450	chr5:108023715-108023716	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183455323	chr5:108023747-108023748	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188979814	chr5:108023777-108023778	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568065749	chr5:108023920-108023921	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs546643010	chr5:108023989-108023990	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs10043367	chr5:108024006-108024007	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115838260	chr5:108024040-108024041	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190881078	chr5:108024049-108024050	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571957379	chr5:108024134-108024135	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541911122	chr5:108024145-108024146	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs1876625	chr5:108024159-108024160	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148944343	chr5:108024180-108024181	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs74735330	chr5:108024192-108024193	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111578765	chr5:108024211-108024212	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182830545	chr5:108024227-108024228	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545376986	chr5:108024286-108024287	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564972781	chr5:108024310-108024311	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs1876624	chr5:108024311-108024312	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188134824	chr5:108024327-108024328	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560866016	chr5:108024331-108024332	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143678343	chr5:108024411-108024412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148081175	chr5:108024496-108024497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141380402	chr5:108024516-108024517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530057971	chr5:108024521-108024522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532145746	chr5:108024528-108024529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552183199	chr5:108024567-108024568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548364189	chr5:108024628-108024629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108007000-108034800	Weak transcription	Right Atrium	heart
2	chr5:108017600-108023600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:108017600-108023600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:108021000-108024000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:108021200-108024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:108021200-108024600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:108021400-108024000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:108021400-108024200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:108021600-108024000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:108021800-108023600	Weak transcription	Osteobl	bone
11	chr5:108021800-108024000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:108021800-108024000	Enhancers	Fetal Brain Male	brain
13	chr5:108021800-108024200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:108022000-108023400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:108022000-108023400	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:108022000-108024200	Enhancers	Brain Angular Gyrus	brain
17	chr5:108022000-108024400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:108022200-108023200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:108022200-108023800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:108022200-108023800	Enhancers	Brain Anterior Caudate	brain
21	chr5:108022200-108024000	Enhancers	Brain Hippocampus Middle	brain
22	chr5:108022200-108024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:108022400-108023800	Enhancers	Brain Germinal Matrix	brain
24	chr5:108022400-108024200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:108022400-108024400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:108022600-108023800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:108022600-108024400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:108022600-108024600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:108022800-108024400	Enhancers	Fetal Thymus	thymus
30	chr5:108023000-108024200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:108023000-108024400	Enhancers	GM12878-XiMat	blood
32	chr5:108023200-108023800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:108023600-108023800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:108023600-108023800	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:108023600-108023800	Enhancers	Osteobl	bone
36	chr5:108023600-108024000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:108023600-108024000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:108023600-108024000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:108023600-108024000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:108023600-108024000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:108023600-108024000	Enhancers	Thymus	Thymus
42	chr5:108023800-108024400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:108024200-108024400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:108024200-108024400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:108024400-108032600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:108024400-108033000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:108024600-108032600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:108031800-108032000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:108032000-108032800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:108032400-108033600	Enhancers	HUES48 Cell Line	embryonic stem cell

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