Variant report

Variant	nsv539210
Chromosome Location	chr7:152894293-153099991
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:111)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:111 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:153044433..153047709-chr7:153053514..153056497,3	K562	blood:
2	chr7:152975810..152978367-chr7:153090771..153092970,2	K562	blood:
3	chr7:152941333..152942973-chr7:153102433..153104894,2	K562	blood:
4	chr7:153016352..153018288-chr7:153019848..153021405,2	K562	blood:
5	chr17:58469104..58471678-chr7:153043936..153045780,2	MCF-7	breast:
6	chr7:152890009..152890763-chr7:153066469..153067438,2	MCF-7	breast:
7	chr7:153045951..153048342-chr7:153050457..153052343,2	K562	blood:
8	chr7:153055542..153057416-chr7:153103974..153105838,2	K562	blood:
9	chr7:152993926..152995856-chr7:152996006..152997666,2	K562	blood:
10	chr7:153033881..153035423-chr7:153075669..153078546,2	K562	blood:
11	chr7:152990027..152992011-chr7:152995772..152997707,2	K562	blood:
12	chr7:152892350..152895331-chr7:153094490..153096046,2	K562	blood:
13	chr7:153095496..153100083-chr7:153227240..153231404,4	K562	blood:
14	chr7:152889841..152890846-chr7:152935444..152936722,7	MCF-7	breast:
15	chr7:152591184..152592070-chr7:153078454..153079236,2	MCF-7	breast:
16	chr7:152993926..152995856-chr7:152996006..152997666,2	K562	blood:
17	chr7:153089054..153091644-chr7:153185631..153188291,2	K562	blood:
18	chr7:153077622..153081135-chr7:153081678..153084143,4	K562	blood:
19	chr7:153021290..153023389-chr7:153093979..153096811,2	K562	blood:
20	chr7:153054222..153056316-chr7:153099590..153102499,2	K562	blood:
21	chr7:153094292..153096861-chr7:153257977..153260330,2	K562	blood:
22	chr7:152977134..152979639-chr7:152980585..152982158,2	K562	blood:
23	chr7:153018926..153020911-chr7:153105135..153106975,2	K562	blood:
24	chr7:152947748..152949504-chr7:153104988..153107669,2	K562	blood:
25	chr7:153094372..153097321-chr7:153253930..153256627,2	K562	blood:
26	chr7:153033553..153036164-chr7:153103737..153105487,2	K562	blood:
27	chr7:153094631..153097549-chr7:153392733..153395555,2	K562	blood:
28	chr7:152994343..152995845-chr7:152998674..153000220,2	K562	blood:
29	chr7:152987063..152989091-chr7:152989244..152991787,2	MCF-7	breast:
30	chr7:153065822..153067507-chr7:153075563..153078240,2	K562	blood:
31	chr7:153044919..153047709-chr7:153054180..153055947,2	K562	blood:
32	chr7:153092517..153095170-chr7:153147417..153149033,2	K562	blood:
33	chr7:152987063..152989091-chr7:152989244..152991787,2	MCF-7	breast:
34	chr17:41463652..41466237-chr7:152975981..152977481,2	K562	blood:
35	chr7:153037739..153042014-chr7:153077281..153081479,4	K562	blood:
36	chr7:152892350..152895331-chr7:153094490..153096046,2	K562	blood:
37	chr7:153077622..153081135-chr7:153081678..153084143,4	K562	blood:
38	chr7:152877189..152880146-chr7:152921229..152923329,2	K562	blood:
39	chr7:153054753..153057546-chr7:153057782..153059510,2	K562	blood:
40	chr7:153067475..153070382-chr7:153072766..153075413,3	K562	blood:
41	chr7:152877954..152879856-chr7:153096882..153099868,2	K562	blood:
42	chr7:153054753..153057546-chr7:153057782..153059510,2	K562	blood:
43	chr7:153035622..153038068-chr7:153039274..153041067,2	K562	blood:
44	chr7:153029560..153032040-chr7:153105014..153106931,2	K562	blood:
45	chr7:152810422..152812239-chr7:153097689..153099428,2	K562	blood:
46	chr7:153080633..153085077-chr7:153085115..153088222,5	K562	blood:
47	chr7:153033881..153035423-chr7:153075669..153078546,2	K562	blood:
48	chr7:153077274..153079986-chr7:153084409..153086483,3	K562	blood:
49	chr7:152964213..152967180-chr7:152968454..152970923,2	K562	blood:
50	chr7:153044919..153047709-chr7:153054180..153055947,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPP6-3	chr7:153093149-153093207	XLOC_006297
2	lnc-XRCC2-1	chr7:153097005-153097631	ENSG00000234722
3	lnc-DPP6-3	chr7:153092498-153092703	XLOC_006297
4	lnc-DPP6-3	chr7:153086676-153086815	XLOC_006297
5	lnc-XRCC2-1	chr7:153097005-153097631	ENSG00000234722.3
6	lnc-DPP6-3	chr7:153092527-153092639	XLOC_006297

No data

Variant related genes	Relation type
ENSG00000170832	chromatin interactions
ENSG00000222281	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000141371	chromatin interactions
DHX57	miRNA target sites
LRRC1	miRNA target sites

Extended variants
information (count: 2895 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2895 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4236451	chr7:152901221-152901222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537677520	chr7:152901228-152901229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546292405	chr7:152901251-152901252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77625439	chr7:152901295-152901296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577504608	chr7:152901317-152901318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535015499	chr7:152901410-152901411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553654332	chr7:152901437-152901438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141410276	chr7:152901487-152901488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542610355	chr7:152901488-152901489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548639506	chr7:152901506-152901507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189311295	chr7:152901513-152901514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560999967	chr7:152901521-152901522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180995879	chr7:152901576-152901577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150837490	chr7:152901597-152901598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557346813	chr7:152921046-152921047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147503057	chr7:152921056-152921057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374024638	chr7:152921060-152921061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539944463	chr7:152921080-152921081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529068577	chr7:152921090-152921091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544542614	chr7:152921091-152921092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2710208	chr7:152921112-152921113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs117454153	chr7:152921135-152921136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545731849	chr7:152921170-152921171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528975565	chr7:152921189-152921190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140718243	chr7:152921208-152921209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527789181	chr7:152921227-152921228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549038470	chr7:152921228-152921229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144626982	chr7:152921230-152921231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538033561	chr7:152921353-152921354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556626408	chr7:152921370-152921371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7786346	chr7:152921373-152921374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78666164	chr7:152921374-152921375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531647440	chr7:152921412-152921413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533125724	chr7:152921436-152921437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182844377	chr7:152921481-152921482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572844320	chr7:152921497-152921498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577170175	chr7:152921549-152921550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372889597	chr7:152921561-152921562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541372311	chr7:152921565-152921566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555478067	chr7:152921589-152921590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573913182	chr7:152921600-152921601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559605850	chr7:152921642-152921643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544408605	chr7:152921658-152921659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562686977	chr7:152921690-152921691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139004182	chr7:152921694-152921695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551375207	chr7:152921699-152921700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530187518	chr7:152921756-152921757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2710207	chr7:152921838-152921839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563914976	chr7:152921876-152921877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188142641	chr7:152921884-152921885	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152901200-152901600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:152921000-152922400	Enhancers	Primary T cells from cord blood	blood
3	chr7:152931200-152931400	Enhancers	Placenta	Placenta
4	chr7:152931400-152932200	ZNF genes & repeats	Placenta	Placenta
5	chr7:152941400-152943400	Enhancers	Placenta	Placenta
6	chr7:152942800-152943400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr7:152943400-152943800	Weak transcription	Placenta	Placenta
8	chr7:152943800-152945200	Enhancers	Placenta	Placenta
9	chr7:152945200-152945600	Weak transcription	Placenta	Placenta
10	chr7:152945600-152945800	Enhancers	Placenta	Placenta
11	chr7:152945800-152948600	Weak transcription	Placenta	Placenta
12	chr7:152948600-152948800	Enhancers	Placenta	Placenta
13	chr7:152950200-152950400	Enhancers	Pancreas	Pancrea
14	chr7:152950400-152950600	Weak transcription	Pancreas	Pancrea
15	chr7:152952400-152954800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:152953200-152953600	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:152955800-152956200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:152955800-152956200	Enhancers	Brain Anterior Caudate	brain
19	chr7:152955800-152956200	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:152955800-152956400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:152955800-152956400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:152955800-152956400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:152955800-152956400	Enhancers	Brain Substantia Nigra	brain
24	chr7:152955800-152956600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:152956000-152956400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:152956000-152956400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:152956000-152956400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:152956400-152961400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:152961400-152962000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:152961600-152961800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:152961800-152964600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:152962000-152962800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:152964600-152964800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:152986200-152986800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:152986400-152987000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:152986400-152987000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:152986800-152987000	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:152986800-152987600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:152987000-152987200	Enhancers	HSMM	muscle
40	chr7:152987600-152987800	Enhancers	Primary hematopoietic stem cells	blood
41	chr7:152992800-152993000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:152993000-152994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:152993600-152994800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:152994000-152994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:152994200-152994600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:152994200-152995600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:152994400-152994800	Enhancers	Placenta	Placenta
48	chr7:152994400-152995600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:152995200-152996200	Enhancers	Fetal Kidney	kidney
50	chr7:152995600-152997600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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