Variant report

Variant	nsv980937
Chromosome Location	chr5:81075334-81097245
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80959308..80961024-chr5:81090290..81092398,2	K562	blood:
2	chr5:81073239..81075996-chr5:81079626..81082317,4	K562	blood:
3	chr5:81046662..81049318-chr5:81079094..81082798,3	K562	blood:
4	chr5:81088709..81091547-chr5:81093065..81095903,2	K562	blood:
5	chr5:81046002..81048988-chr5:81090501..81092343,2	K562	blood:
6	chr5:81087373..81090269-chr5:81090799..81094895,4	K562	blood:
7	chr5:81096228..81099183-chr5:81114424..81117893,3	K562	blood:
8	chr5:81090226..81092462-chr5:81097873..81100366,2	K562	blood:
9	chr5:81046770..81048800-chr5:81081065..81084833,3	MCF-7	breast:
10	chr5:81059460..81061720-chr5:81092374..81094863,2	K562	blood:
11	chr5:81079948..81083926-chr5:81089732..81092133,3	K562	blood:
12	chr5:81081244..81081894-chr5:81461502..81462199,2	MCF-7	breast:
13	chr5:81082469..81084190-chr5:81145873..81148635,2	K562	blood:
14	chr5:81087872..81090171-chr5:81298580..81301554,2	K562	blood:
15	chr5:81088709..81091547-chr5:81093065..81095903,2	K562	blood:
16	chr5:81081006..81081764-chr5:81267175..81267687,2	MCF-7	breast:
17	chr5:81081127..81083297-chr5:81231807..81233945,2	K562	blood:
18	chr5:81083875..81086632-chr5:81091539..81094175,2	MCF-7	breast:
19	chr5:81079295..81082445-chr5:81146776..81149352,4	K562	blood:
20	chr5:81093228..81096875-chr5:81097004..81099799,3	K562	blood:
21	chr5:81083688..81084388-chr5:81134329..81134845,2	MCF-7	breast:
22	chr5:81083875..81086632-chr5:81091539..81094175,2	MCF-7	breast:
23	chr5:81077621..81079344-chr5:81094493..81096502,2	K562	blood:
24	chr5:81054557..81056248-chr5:81096931..81099616,2	MCF-7	breast:
25	chr5:81094814..81097078-chr5:81136196..81138999,2	MCF-7	breast:
26	chr5:81073239..81075996-chr5:81079626..81082317,4	K562	blood:
27	chr5:81069624..81072338-chr5:81075602..81078025,2	K562	blood:
28	chr5:81087373..81090269-chr5:81090799..81094895,4	K562	blood:
29	chr5:81080883..81081860-chr5:81134045..81135042,6	MCF-7	breast:
30	chr5:81079948..81083926-chr5:81089732..81092133,3	K562	blood:
31	chr5:81093228..81096875-chr5:81097004..81099799,3	K562	blood:
32	chr5:81083834..81085888-chr5:81131338..81134292,2	K562	blood:
33	chr5:81077621..81079344-chr5:81094493..81096502,2	K562	blood:
34	chr5:81080822..81081725-chr5:81150091..81150639,2	MCF-7	breast:
35	chr5:81082698..81086558-chr5:81146614..81149156,4	MCF-7	breast:
36	chr5:81083054..81085270-chr5:81267961..81269630,2	MCF-7	breast:
37	chr5:81080936..81081788-chr5:81147074..81147670,2	MCF-7	breast:
38	chr5:81045949..81049544-chr5:81078854..81082727,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145687	chromatin interactions
ENSG00000152348	chromatin interactions
ENSG00000249483	chromatin interactions

Extended variants
information (count: 761 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117026868	chr5:81075350-81075351	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535155569	chr5:81075354-81075355	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556260519	chr5:81075357-81075358	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553270679	chr5:81075373-81075374	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574739311	chr5:81075388-81075389	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542108844	chr5:81075398-81075399	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563650152	chr5:81075406-81075407	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575603249	chr5:81075468-81075469	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373213073	chr5:81075471-81075472	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189262427	chr5:81075484-81075485	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150938137	chr5:81075529-81075530	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544037357	chr5:81075561-81075562	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547514057	chr5:81075609-81075610	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560740733	chr5:81075633-81075634	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79042098	chr5:81075749-81075750	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371241866	chr5:81075781-81075782	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529922756	chr5:81075782-81075783	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548459056	chr5:81075792-81075793	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574722854	chr5:81075820-81075821	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530896069	chr5:81075878-81075879	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78822006	chr5:81075925-81075926	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374520965	chr5:81075930-81075931	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552275488	chr5:81075954-81075955	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs465059	chr5:81075969-81075970	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370072690	chr5:81075998-81075999	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534805443	chr5:81076014-81076015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550267039	chr5:81076050-81076051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs35242232	chr5:81076055-81076056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs73768132	chr5:81076056-81076057	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs568276259	chr5:81076080-81076081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535672708	chr5:81076093-81076094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557197280	chr5:81076102-81076103	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575516109	chr5:81076136-81076137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546504273	chr5:81076165-81076166	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150064585	chr5:81076177-81076178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576809850	chr5:81076194-81076195	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540727176	chr5:81076303-81076304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559491501	chr5:81076342-81076343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529888218	chr5:81076348-81076349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552176884	chr5:81076360-81076361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542062876	chr5:81076422-81076423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563511846	chr5:81076426-81076427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181287906	chr5:81076528-81076529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562602078	chr5:81076574-81076575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531423207	chr5:81076575-81076576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186194080	chr5:81076588-81076589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548844223	chr5:81076725-81076726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145300537	chr5:81076757-81076758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141349584	chr5:81076761-81076762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534361910	chr5:81076778-81076779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81065200-81083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:81069000-81075800	Weak transcription	Left Ventricle	heart
3	chr5:81071000-81075400	Weak transcription	Spleen	Spleen
4	chr5:81071200-81075400	Weak transcription	Lung	lung
5	chr5:81072400-81083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:81074000-81075600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:81074200-81075400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:81074200-81075400	Flanking Active TSS	Fetal Lung	lung
9	chr5:81074200-81075400	Active TSS	Right Atrium	heart
10	chr5:81074200-81075600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:81074200-81075600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:81074200-81075600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:81074200-81075600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr5:81074200-81075600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr5:81074200-81075600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr5:81074200-81075600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr5:81074200-81075800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:81074200-81075800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:81074200-81075800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:81074200-81075800	Enhancers	Small Intestine	intestine
21	chr5:81074200-81075800	Flanking Active TSS	K562	blood
22	chr5:81074200-81076000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:81074400-81075400	Active TSS	Brain Angular Gyrus	brain
24	chr5:81074400-81075400	Enhancers	Fetal Heart	heart
25	chr5:81074400-81075400	Flanking Active TSS	NHLF	lung
26	chr5:81074400-81075400	Flanking Active TSS	Osteobl	bone
27	chr5:81074400-81075600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr5:81074400-81075600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr5:81074400-81075600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:81074400-81075600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:81074400-81075600	Enhancers	Fetal Brain Male	brain
32	chr5:81074400-81075600	Enhancers	Fetal Brain Female	brain
33	chr5:81074400-81075600	Enhancers	Placenta	Placenta
34	chr5:81074400-81075600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:81074400-81075600	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:81074400-81075600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr5:81074400-81075800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:81074400-81075800	Enhancers	Fetal Intestine Large	intestine
39	chr5:81074400-81075800	Flanking Active TSS	Dnd41	blood
40	chr5:81074400-81076000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:81074400-81076000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:81074600-81075400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:81074600-81075400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr5:81074600-81075400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:81074600-81075400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:81074600-81075400	Flanking Active TSS	Fetal Kidney	kidney
47	chr5:81074600-81075400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:81074600-81075400	Flanking Active TSS	Fetal Thymus	thymus
49	chr5:81074600-81075400	Active TSS	HepG2	liver
50	chr5:81074600-81075400	Flanking Active TSS	HUVEC	blood vessel

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