Variant report

Variant	nsv1028183
Chromosome Location	chr7:61987161-62439281
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
2	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
3	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
4	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
5	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
6	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
7	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
8	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
9	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 29567 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:29567 , 50 per page) page: 1 2 3 4 5 6 7 ... 592

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372717588	chr7:61987164-61987165	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562281699	chr7:61987165-61987166	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377422994	chr7:61987168-61987169	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201764713	chr7:61987187-61987188	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111815563	chr7:61987195-61987196	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190704963	chr7:61987197-61987198	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62478695	chr7:61987199-61987200	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529790387	chr7:61987209-61987210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575445257	chr7:61987211-61987212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199609860	chr7:61987224-61987225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183291210	chr7:61987233-61987234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562662090	chr7:61987236-61987237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62478696	chr7:61987238-61987239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200939063	chr7:61987240-61987241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62478698	chr7:61987245-61987246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187918131	chr7:61987248-61987249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529987558	chr7:61987249-61987250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548184615	chr7:61987260-61987261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149217584	chr7:61987264-61987265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138396309	chr7:61987288-61987289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560572785	chr7:61987291-61987292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144629343	chr7:61987303-61987304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142139065	chr7:61987312-61987313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62478699	chr7:61987338-61987339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552471343	chr7:61987350-61987351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570538253	chr7:61987355-61987356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564462260	chr7:61987378-61987379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533438341	chr7:61987379-61987380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113889262	chr7:61987387-61987388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535584900	chr7:61987392-61987393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201940506	chr7:61987394-61987395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199879129	chr7:61987400-61987401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191186841	chr7:61987410-61987411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111987772	chr7:61987433-61987434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187971786	chr7:61987440-61987441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201848275	chr7:61987444-61987445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572037719	chr7:61987445-61987446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534214059	chr7:61987450-61987451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369445383	chr7:61987453-61987454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13246357	chr7:61987461-61987462	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111708826	chr7:61987474-61987475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368631165	chr7:61987480-61987481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577335595	chr7:61987481-61987482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115491055	chr7:61987484-61987485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187496598	chr7:61987501-61987502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113271350	chr7:61987509-61987510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113497865	chr7:61987520-61987521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112092251	chr7:61987523-61987524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574580656	chr7:61987533-61987534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559075000	chr7:61987553-61987554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Bipolar disorder	19214233	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Schizophrenia	23813976	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61974800-61995400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:61974800-61995600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:61974800-61998400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr7:61974800-62010000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr7:61974800-62010000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr7:61984600-61987400	ZNF genes & repeats	Left Ventricle	heart
7	chr7:61984800-61987400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:61986000-61987200	ZNF genes & repeats	Brain Substantia Nigra	brain
9	chr7:61986000-61987200	ZNF genes & repeats	Right Ventricle	heart
10	chr7:61986000-61987200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
11	chr7:61986000-61987200	ZNF genes & repeats	Small Intestine	intestine
12	chr7:61986000-61987200	ZNF genes & repeats	HUVEC	blood vessel
13	chr7:61986400-61987200	Enhancers	Thymus	Thymus
14	chr7:61986400-61989200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:61986400-61989200	Weak transcription	K562	blood
16	chr7:61986400-61989400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:61986400-61989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:61986400-61990600	Weak transcription	Fetal Kidney	kidney
19	chr7:61986400-61990600	Weak transcription	Fetal Thymus	thymus
20	chr7:61986400-61990600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:61986400-61990800	Weak transcription	Esophagus	oesophagus
22	chr7:61986400-61990800	Weak transcription	Lung	lung
23	chr7:61986400-61990800	Weak transcription	NHLF	lung
24	chr7:61987000-61987600	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr7:61987200-61988400	Weak transcription	Thymus	Thymus
26	chr7:61987400-61987800	Weak transcription	Right Ventricle	heart
27	chr7:61987400-61989200	Weak transcription	Left Ventricle	heart
28	chr7:61987600-61990600	Weak transcription	Psoas Muscle	Psoas
29	chr7:61987800-61993800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr7:61988000-61991400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr7:61988600-61989800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:61988800-61992800	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr7:61989000-61991000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:61989000-61991000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr7:61989000-61991600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:61989200-61989600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
37	chr7:61989200-61989600	ZNF genes & repeats	K562	blood
38	chr7:61989200-61989600	ZNF genes & repeats	NH-A	brain
39	chr7:61989200-61989800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:61989200-61989800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
41	chr7:61989200-61989800	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr7:61989200-61989800	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr7:61989200-61991000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:61989200-61991000	ZNF genes & repeats	Liver	Liver
45	chr7:61989200-61991000	ZNF genes & repeats	Left Ventricle	heart
46	chr7:61989200-61991000	ZNF genes & repeats	HUVEC	blood vessel
47	chr7:61989200-61991200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:61989200-61991200	ZNF genes & repeats	HepG2	liver
49	chr7:61989200-61991400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr7:61989200-61991400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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