Variant report

Variant	nsv1032483
Chromosome Location	chr7:61826069-62296227
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:45)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
2	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
3	chr11:63950861..63953375-chr7:61969464..61971091,2	K562	blood:
4	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
5	chr7:61967856..61971070-chr8:58714316..58715816,4	K562	blood:
6	chr10:42527395..42527915-chr7:61970565..61971091,3	MCF-7	breast:
7	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
8	chr20:52370017..52370874-chr7:61969357..61969967,2	MCF-7	breast:
9	chr10:42526395..42527915-chr7:61967791..61969507,5	MCF-7	breast:
10	chr16:1429819..1431603-chr7:61967775..61969442,2	MCF-7	breast:
11	chr20:55824160..55824726-chr7:61968550..61969274,2	MCF-7	breast:
12	chr1:191006072..191007919-chr7:61967833..61970042,2	MCF-7	breast:
13	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
14	chr14:29714914..29715705-chr7:61970951..61971586,2	MCF-7	breast:
15	chr10:42525601..42527915-chr7:61967079..61969278,2	K562	blood:
16	chr20:46692208..46692789-chr7:61968943..61969520,2	MCF-7	breast:
17	chr10:42526394..42527915-chr7:61967791..61969362,3	MCF-7	breast:
18	chr7:61967943..61970858-chr7:75931774..75934475,2	MCF-7	breast:
19	chr3:64043547..64044153-chr7:61969362..61969878,2	MCF-7	breast:
20	chr10:42527395..42527914-chr7:61968778..61969295,2	MCF-7	breast:
21	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
22	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
23	chr17:73511595..73513321-chr7:61968020..61970850,2	MCF-7	breast:
24	chr4:8654425..8657330-chr7:61967859..61969474,2	MCF-7	breast:
25	chr20:49942718..49943230-chr7:61968963..61969517,2	MCF-7	breast:
26	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
27	chr10:42525601..42527915-chr7:61967079..61969468,3	K562	blood:
28	chr7:61969210..61969976-chr8:53657642..53658150,2	MCF-7	breast:
29	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
30	chr1:121483889..121484797-chr7:61974740..61975240,2	MCF-7	breast:
31	chr4:91025999..91028875-chr7:61969348..61970976,2	MCF-7	breast:
32	chr17:59328333..59331074-chr7:61967802..61970795,2	MCF-7	breast:
33	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
34	chr7:61967856..61970847-chr8:58714316..58715816,2	K562	blood:
35	chr14:102551841..102553604-chr7:61969473..61971085,2	MCF-7	breast:
36	chr10:42527415..42527915-chr7:61968777..61969450,2	MCF-7	breast:
37	chr20:3786959..3788753-chr7:61967828..61969450,2	MCF-7	breast:
38	chr10:42527395..42527915-chr7:61968790..61969454,6	MCF-7	breast:
39	chr19:14627777..14629340-chr7:61968008..61969542,2	MCF-7	breast:
40	chr17:59939771..59941744-chr7:61968022..61970059,2	MCF-7	breast:
41	chr18:33251821..33252438-chr7:61968851..61969524,2	K562	blood:
42	chr10:42527395..42527923-chr7:61968860..61969524,4	MCF-7	breast:
43	chr18:18518513..18519030-chr7:61979393..61979915,2	MCF-7	breast:
44	chr2:230809935..230810929-chr7:61969025..61969969,2	MCF-7	breast:
45	chr1:149221735..149223983-chr7:61969300..61970873,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-12	chr7:61970441-61970493	NONHSAT120885
2	lnc-AC006455.1-12	chr7:61968944-61969128	NONHSAT120885
3	lnc-AC006455.1-12	chr7:61971118-61971191	NONHSAT120885
4	lnc-AC006455.1-12	chr7:61969203-61969572	NONHSAT120885

No data

Variant related genes	Relation type
ENSG00000106211	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000080824	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000177303	chromatin interactions
ENSG00000099797	chromatin interactions
ENSG00000182173	chromatin interactions

Extended variants
information (count: 33732 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:33732 , 50 per page) page: 1 2 3 4 5 6 7 ... 675

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558804146	chr7:61826069-61826070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs199649420	chr7:61826075-61826076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs372514678	chr7:61826077-61826078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576798743	chr7:61826083-61826084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200552930	chr7:61826089-61826090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544173037	chr7:61826097-61826098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529753403	chr7:61826102-61826103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs377195262	chr7:61826106-61826107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370372126	chr7:61826107-61826108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201935078	chr7:61826112-61826113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374749708	chr7:61826116-61826117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs377681212	chr7:61826117-61826118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112878910	chr7:61826118-61826119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147808703	chr7:61826119-61826120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541482199	chr7:61826122-61826123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370936653	chr7:61826128-61826129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561147435	chr7:61826129-61826130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199652446	chr7:61826137-61826138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528655063	chr7:61826148-61826149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs547014587	chr7:61826155-61826156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs115038206	chr7:61826160-61826161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs115051591	chr7:61826161-61826162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571890656	chr7:61826174-61826175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140889219	chr7:61826177-61826178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10277690	chr7:61826182-61826183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550968866	chr7:61826186-61826187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181416579	chr7:61826187-61826188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138919735	chr7:61826193-61826194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569234257	chr7:61826195-61826196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147262772	chr7:61826201-61826202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149887045	chr7:61826204-61826205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147136101	chr7:61826222-61826223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs370625318	chr7:61826229-61826230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75869003	chr7:61826235-61826236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs536749133	chr7:61826238-61826239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199898576	chr7:61826245-61826246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75409703	chr7:61826252-61826253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79038813	chr7:61826255-61826256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566713523	chr7:61826258-61826259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76178439	chr7:61826268-61826269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533958325	chr7:61826271-61826272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78659989	chr7:61826284-61826285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs77956642	chr7:61826288-61826289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558607125	chr7:61826289-61826290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376252194	chr7:61826297-61826298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201555532	chr7:61826303-61826304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs76080364	chr7:61826307-61826308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs62456871	chr7:61826321-61826322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs556130533	chr7:61826335-61826336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75023241	chr7:61826338-61826339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:1618 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61815000-61826200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:61819000-61827800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:61820000-61826200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:61820000-61826200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:61825000-61828000	ZNF genes & repeats	Liver	Liver
6	chr7:61825400-61826200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:61826800-61827800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr7:61827000-61827200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
9	chr7:61827000-61827200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:61827000-61827200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
11	chr7:61827000-61827400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:61827000-61827600	ZNF genes & repeats	Fetal Brain Male	brain
13	chr7:61835800-61836600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:61836600-61838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:61838400-61839000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:61838600-61839000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr7:61845600-61846400	ZNF genes & repeats	Liver	Liver
18	chr7:61845600-61847000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr7:61845600-61847800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr7:61845600-61848400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr7:61845800-61846600	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr7:61845800-61848400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:61857200-61863800	ZNF genes & repeats	Liver	Liver
24	chr7:61857400-61859000	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr7:61857600-61860400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr7:61859600-61860400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:61859800-61860600	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr7:61863000-61863600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr7:61863800-61865000	Weak transcription	Liver	Liver
30	chr7:61865000-61899200	ZNF genes & repeats	Liver	Liver
31	chr7:61865400-61899200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr7:61865600-61899400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:61867600-61873200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr7:61867600-61893400	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr7:61867800-61880400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr7:61868000-61869800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr7:61868600-61898800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr7:61869200-61869600	Active TSS	Right Atrium	heart
39	chr7:61869400-61869800	Active TSS	Aorta	Aorta
40	chr7:61869600-61872000	Weak transcription	Right Atrium	heart
41	chr7:61869800-61871800	Weak transcription	Aorta	Aorta
42	chr7:61871800-61872600	Active TSS	Aorta	Aorta
43	chr7:61872000-61873600	Active TSS	Right Atrium	heart
44	chr7:61872600-61875200	Weak transcription	Aorta	Aorta
45	chr7:61875200-61878800	Active TSS	Aorta	Aorta
46	chr7:61876600-61877000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr7:61877200-61879800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr7:61877400-61878200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr7:61877600-61884800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:61878800-61880200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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