Variant report

Variant	nsv888194
Chromosome Location	chr7:62001639-62413547
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	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
2	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
3	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
4	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
5	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
6	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
7	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
8	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
9	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 26167 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:26167 , 50 per page) page: 1 2 3 4 5 6 7 ... 524

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12666183	chr7:62001639-62001640	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199530563	chr7:62001644-62001645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12666184	chr7:62001646-62001647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201805897	chr7:62001647-62001648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548474316	chr7:62001657-62001658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544347774	chr7:62001658-62001659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562435092	chr7:62001661-62001662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199655942	chr7:62001671-62001672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200653744	chr7:62001676-62001677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201814109	chr7:62001677-62001678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529699073	chr7:62001685-62001686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113715584	chr7:62001686-62001687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375885559	chr7:62001687-62001688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113297407	chr7:62001694-62001695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548196358	chr7:62001698-62001699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368565250	chr7:62001701-62001702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372769188	chr7:62001702-62001703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200098937	chr7:62001704-62001705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567861261	chr7:62001705-62001706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200916132	chr7:62001733-62001734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528821994	chr7:62001737-62001738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113935739	chr7:62001738-62001739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111838170	chr7:62001748-62001749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546837110	chr7:62001752-62001753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571509901	chr7:62001755-62001756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538717268	chr7:62001762-62001763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201436732	chr7:62001771-62001772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78061902	chr7:62001774-62001775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113324706	chr7:62001806-62001807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201011763	chr7:62001838-62001839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536227510	chr7:62001840-62001841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554991144	chr7:62001851-62001852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573016371	chr7:62001852-62001853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375347643	chr7:62001864-62001865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112424195	chr7:62001883-62001884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202104445	chr7:62001891-62001892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113405809	chr7:62001898-62001899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540526503	chr7:62001901-62001902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200463477	chr7:62001902-62001903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112726710	chr7:62001912-62001913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111480801	chr7:62001918-62001919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202143683	chr7:62001920-62001921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562002600	chr7:62001930-62001931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113716710	chr7:62001940-62001941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113224903	chr7:62001945-62001946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147761534	chr7:62001950-62001951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142908377	chr7:62001952-62001953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370354669	chr7:62001954-62001955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577129319	chr7:62001957-62001958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140488217	chr7:62001963-62001964	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:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61974800-62010000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:61974800-62010000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr7:61995200-62003000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:61997800-62001800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:61998000-62006400	Weak transcription	NH-A	brain
6	chr7:62001200-62002000	ZNF genes & repeats	HUVEC	blood vessel
7	chr7:62001400-62002400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:62001400-62003000	Weak transcription	Aorta	Aorta
9	chr7:62001800-62002000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
10	chr7:62002000-62003000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:62002000-62004000	Weak transcription	HUVEC	blood vessel
12	chr7:62002200-62003000	Weak transcription	Colonic Mucosa	Colon
13	chr7:62002400-62010000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr7:62002800-62003200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr7:62003000-62003200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr7:62003000-62003200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:62003000-62003200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:62003000-62003200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:62003000-62003200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
20	chr7:62003000-62003200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr7:62003000-62003200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:62003000-62003200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:62003000-62003200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
24	chr7:62003000-62003200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
25	chr7:62003000-62003200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
26	chr7:62003000-62003200	Enhancers	Aorta	Aorta
27	chr7:62003000-62003200	ZNF genes & repeats	Liver	Liver
28	chr7:62003000-62003200	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr7:62003000-62003200	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr7:62003000-62003200	ZNF genes & repeats	Colonic Mucosa	Colon
31	chr7:62003000-62003200	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr7:62003000-62003200	ZNF genes & repeats	Fetal Heart	heart
33	chr7:62003000-62003200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr7:62003000-62003200	ZNF genes & repeats	Fetal Thymus	thymus
35	chr7:62003000-62003200	Flanking Bivalent TSS/Enh	Gastric	stomach
36	chr7:62003000-62003200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr7:62003000-62004200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:62003200-62003800	Weak transcription	Aorta	Aorta
39	chr7:62003200-62004000	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:62003200-62006400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:62004000-62005000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr7:62004000-62005800	ZNF genes & repeats	HUVEC	blood vessel
43	chr7:62004000-62009000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr7:62004000-62010000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:62006400-62006800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:62006400-62006800	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr7:62006400-62006800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:62006400-62006800	ZNF genes & repeats	Left Ventricle	heart
49	chr7:62006400-62006800	ZNF genes & repeats	NH-A	brain
50	chr7:62006400-62008000	ZNF genes & repeats	Primary T cells from cord blood	blood

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