Variant report

Variant	nsv1033346
Chromosome Location	chr7:61832045-62404706
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	chr3:64043547..64044153-chr7:61969362..61969878,2	MCF-7	breast:
2	chr10:42526395..42527915-chr7:61967791..61969507,5	MCF-7	breast:
3	chr4:91025999..91028875-chr7:61969348..61970976,2	MCF-7	breast:
4	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
5	chr17:59939771..59941744-chr7:61968022..61970059,2	MCF-7	breast:
6	chr10:42527415..42527915-chr7:61968777..61969450,2	MCF-7	breast:
7	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
8	chr20:3786959..3788753-chr7:61967828..61969450,2	MCF-7	breast:
9	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
10	chr1:149221735..149223983-chr7:61969300..61970873,2	K562	blood:
11	chr18:18518513..18519030-chr7:61979393..61979915,2	MCF-7	breast:
12	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
13	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
14	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
15	chr11:63950861..63953375-chr7:61969464..61971091,2	K562	blood:
16	chr19:14627777..14629340-chr7:61968008..61969542,2	MCF-7	breast:
17	chr10:42525601..42527915-chr7:61967079..61969468,3	K562	blood:
18	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
19	chr1:191006072..191007919-chr7:61967833..61970042,2	MCF-7	breast:
20	chr10:42527395..42527914-chr7:61968778..61969295,2	MCF-7	breast:
21	chr20:52370017..52370874-chr7:61969357..61969967,2	MCF-7	breast:
22	chr7:61967856..61970847-chr8:58714316..58715816,2	K562	blood:
23	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
24	chr14:102551841..102553604-chr7:61969473..61971085,2	MCF-7	breast:
25	chr10:42525601..42527915-chr7:61967079..61969278,2	K562	blood:
26	chr17:59328333..59331074-chr7:61967802..61970795,2	MCF-7	breast:
27	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
28	chr2:230809935..230810929-chr7:61969025..61969969,2	MCF-7	breast:
29	chr14:29714914..29715705-chr7:61970951..61971586,2	MCF-7	breast:
30	chr18:33251821..33252438-chr7:61968851..61969524,2	K562	blood:
31	chr10:42527395..42527923-chr7:61968860..61969524,4	MCF-7	breast:
32	chr7:61967856..61971070-chr8:58714316..58715816,4	K562	blood:
33	chr10:42527395..42527915-chr7:61968790..61969454,6	MCF-7	breast:
34	chr10:42527395..42527915-chr7:61970565..61971091,3	MCF-7	breast:
35	chr20:55824160..55824726-chr7:61968550..61969274,2	MCF-7	breast:
36	chr7:61967943..61970858-chr7:75931774..75934475,2	MCF-7	breast:
37	chr17:73511595..73513321-chr7:61968020..61970850,2	MCF-7	breast:
38	chr4:8654425..8657330-chr7:61967859..61969474,2	MCF-7	breast:
39	chr16:1429819..1431603-chr7:61967775..61969442,2	MCF-7	breast:
40	chr20:46692208..46692789-chr7:61968943..61969520,2	MCF-7	breast:
41	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
42	chr20:49942718..49943230-chr7:61968963..61969517,2	MCF-7	breast:
43	chr7:61969210..61969976-chr8:53657642..53658150,2	MCF-7	breast:
44	chr10:42526394..42527915-chr7:61967791..61969362,3	MCF-7	breast:
45	chr1:121483889..121484797-chr7:61974740..61975240,2	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 39832 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:39832 , 50 per page) page: 1 2 3 4 5 6 7 ... 797

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202075001	chr7:61835818-61835819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528317307	chr7:61835820-61835821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546782842	chr7:61835824-61835825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200070404	chr7:61835830-61835831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571462365	chr7:61835838-61835839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201179159	chr7:61835842-61835843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538880451	chr7:61835848-61835849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs550344845	chr7:61835854-61835855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568818127	chr7:61835855-61835856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185255453	chr7:61835856-61835857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs61113884	chr7:61835858-61835859	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572566387	chr7:61835864-61835865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534894476	chr7:61835874-61835875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs80186208	chr7:61835882-61835883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79898659	chr7:61835886-61835887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs74316784	chr7:61835888-61835889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553482598	chr7:61835895-61835896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs578262464	chr7:61835908-61835909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545675598	chr7:61835916-61835917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs563570081	chr7:61835939-61835940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377719344	chr7:61835946-61835947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201143278	chr7:61835954-61835955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575690037	chr7:61835961-61835962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192509375	chr7:61835979-61835980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs58766382	chr7:61835982-61835983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs6601242	chr7:61835985-61835986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7384353	chr7:61835993-61835994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs59497793	chr7:61836008-61836009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532336936	chr7:61836009-61836010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550829920	chr7:61836017-61836018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs377221736	chr7:61836030-61836031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200813184	chr7:61836046-61836047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs28544039	chr7:61836079-61836080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530915814	chr7:61836080-61836081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201162894	chr7:61836087-61836088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547740329	chr7:61836094-61836095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189913009	chr7:61836095-61836096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533636306	chr7:61836109-61836110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199625698	chr7:61836113-61836114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs373544035	chr7:61836124-61836125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs376390320	chr7:61836138-61836139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200182843	chr7:61836166-61836167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201295419	chr7:61836170-61836171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553334076	chr7:61836171-61836172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs199695436	chr7:61836175-61836176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs578113349	chr7:61836190-61836191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538994301	chr7:61836200-61836201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200815448	chr7:61836206-61836207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557660211	chr7:61836215-61836216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201638388	chr7:61836218-61836219	ZNF genes & repeats	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:1720 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61835800-61836600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:61836600-61838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:61838400-61839000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:61838600-61839000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
5	chr7:61845600-61846400	ZNF genes & repeats	Liver	Liver
6	chr7:61845600-61847000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr7:61845600-61847800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr7:61845600-61848400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr7:61845800-61846600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr7:61845800-61848400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:61857200-61863800	ZNF genes & repeats	Liver	Liver
12	chr7:61857400-61859000	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr7:61857600-61860400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr7:61859600-61860400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:61859800-61860600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr7:61863000-61863600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr7:61863800-61865000	Weak transcription	Liver	Liver
18	chr7:61865000-61899200	ZNF genes & repeats	Liver	Liver
19	chr7:61865400-61899200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr7:61865600-61899400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:61867600-61873200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr7:61867600-61893400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr7:61867800-61880400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr7:61868000-61869800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr7:61868600-61898800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr7:61869200-61869600	Active TSS	Right Atrium	heart
27	chr7:61869400-61869800	Active TSS	Aorta	Aorta
28	chr7:61869600-61872000	Weak transcription	Right Atrium	heart
29	chr7:61869800-61871800	Weak transcription	Aorta	Aorta
30	chr7:61871800-61872600	Active TSS	Aorta	Aorta
31	chr7:61872000-61873600	Active TSS	Right Atrium	heart
32	chr7:61872600-61875200	Weak transcription	Aorta	Aorta
33	chr7:61875200-61878800	Active TSS	Aorta	Aorta
34	chr7:61876600-61877000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
35	chr7:61877200-61879800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr7:61877400-61878200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr7:61877600-61884800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:61878800-61880200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:61878800-61880800	Weak transcription	Aorta	Aorta
40	chr7:61879400-61886000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr7:61879600-61879800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr7:61880800-61881000	Active TSS	Aorta	Aorta
43	chr7:61881000-61881400	Weak transcription	Aorta	Aorta
44	chr7:61881400-61881600	Active TSS	Aorta	Aorta
45	chr7:61881600-61883600	Weak transcription	Aorta	Aorta
46	chr7:61883200-61885800	ZNF genes & repeats	Fetal Brain Male	brain
47	chr7:61883400-61883800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:61883400-61883800	Active TSS	Fetal Heart	heart
49	chr7:61883400-61883800	ZNF genes & repeats	Psoas Muscle	Psoas
50	chr7:61883400-61898000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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