Variant report

Variant	nsv888173
Chromosome Location	chr7:61852895-62461798
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:6)
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	chr18:33251821..33252438-chr7:61968851..61969524,2	K562	blood:
2	chr1:191006072..191007919-chr7:61967833..61970042,2	MCF-7	breast:
3	chr10:42527395..42527915-chr7:61968790..61969454,6	MCF-7	breast:
4	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
5	chr20:46692208..46692789-chr7:61968943..61969520,2	MCF-7	breast:
6	chr7:61969210..61969976-chr8:53657642..53658150,2	MCF-7	breast:
7	chr4:8654425..8657330-chr7:61967859..61969474,2	MCF-7	breast:
8	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
9	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
10	chr17:59328333..59331074-chr7:61967802..61970795,2	MCF-7	breast:
11	chr10:42526395..42527915-chr7:61967791..61969507,5	MCF-7	breast:
12	chr10:42527395..42527914-chr7:61968778..61969295,2	MCF-7	breast:
13	chr17:73511595..73513321-chr7:61968020..61970850,2	MCF-7	breast:
14	chr20:49942718..49943230-chr7:61968963..61969517,2	MCF-7	breast:
15	chr14:102551841..102553604-chr7:61969473..61971085,2	MCF-7	breast:
16	chr10:42525601..42527915-chr7:61967079..61969468,3	K562	blood:
17	chr7:61967943..61970858-chr7:75931774..75934475,2	MCF-7	breast:
18	chr2:230809935..230810929-chr7:61969025..61969969,2	MCF-7	breast:
19	chr10:42527395..42527915-chr7:61970565..61971091,3	MCF-7	breast:
20	chr10:42526394..42527915-chr7:61967791..61969362,3	MCF-7	breast:
21	chr18:18518513..18519030-chr7:61979393..61979915,2	MCF-7	breast:
22	chr10:42527395..42527923-chr7:61968860..61969524,4	MCF-7	breast:
23	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
24	chr1:121483889..121484797-chr7:61974740..61975240,2	MCF-7	breast:
25	chr17:59939771..59941744-chr7:61968022..61970059,2	MCF-7	breast:
26	chr10:42527415..42527915-chr7:61968777..61969450,2	MCF-7	breast:
27	chr16:1429819..1431603-chr7:61967775..61969442,2	MCF-7	breast:
28	chr20:3786959..3788753-chr7:61967828..61969450,2	MCF-7	breast:
29	chr7:61967856..61970847-chr8:58714316..58715816,2	K562	blood:
30	chr11:63950861..63953375-chr7:61969464..61971091,2	K562	blood:
31	chr14:29714914..29715705-chr7:61970951..61971586,2	MCF-7	breast:
32	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
33	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
34	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
35	chr4:91025999..91028875-chr7:61969348..61970976,2	MCF-7	breast:
36	chr19:14627777..14629340-chr7:61968008..61969542,2	MCF-7	breast:
37	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
38	chr20:55824160..55824726-chr7:61968550..61969274,2	MCF-7	breast:
39	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
40	chr7:61967856..61971070-chr8:58714316..58715816,4	K562	blood:
41	chr20:52370017..52370874-chr7:61969357..61969967,2	MCF-7	breast:
42	chr3:64043547..64044153-chr7:61969362..61969878,2	MCF-7	breast:
43	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
44	chr1:149221735..149223983-chr7:61969300..61970873,2	K562	blood:
45	chr10:42525601..42527915-chr7:61967079..61969278,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-12	chr7:61968944-61969128	NONHSAT120885
2	lnc-ZNF680-11	chr7:62441009-62441326	XLOC_006462
3	lnc-AC006455.1-12	chr7:61969203-61969572	NONHSAT120885
4	lnc-ZNF680-11	chr7:62452942-62453054	XLOC_006462
5	lnc-AC006455.1-12	chr7:61970441-61970493	NONHSAT120885
6	lnc-AC006455.1-12	chr7:61971118-61971191	NONHSAT120885

No data

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

Extended variants
information (count: 41525 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:41525 , 50 per page) page: 1 2 3 4 5 6 7 ... 831

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548893138	chr7:61857205-61857206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567206019	chr7:61857219-61857220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182748785	chr7:61857223-61857224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546299433	chr7:61857279-61857280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs80309682	chr7:61857284-61857285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187767516	chr7:61857296-61857297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs1840515	chr7:61857320-61857321	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75369316	chr7:61857323-61857324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs193244118	chr7:61857342-61857343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556133053	chr7:61857366-61857367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs367651722	chr7:61857372-61857373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372880236	chr7:61857378-61857379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541683979	chr7:61857409-61857410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559490910	chr7:61857416-61857417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553165595	chr7:61857452-61857453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577930204	chr7:61857459-61857460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545213041	chr7:61857461-61857462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370081699	chr7:61857474-61857475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183400309	chr7:61857487-61857488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs548780961	chr7:61857489-61857490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560720341	chr7:61857491-61857492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79037471	chr7:61857497-61857498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528376779	chr7:61857505-61857506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546830127	chr7:61857534-61857535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187350401	chr7:61857535-61857536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs114610754	chr7:61857561-61857562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568028134	chr7:61857562-61857563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568959293	chr7:61857569-61857570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116488045	chr7:61857579-61857580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371880750	chr7:61857589-61857590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112111329	chr7:61857600-61857601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143457025	chr7:61857607-61857608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567814754	chr7:61857610-61857611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535017366	chr7:61857611-61857612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143978775	chr7:61857614-61857615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148506323	chr7:61857621-61857622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146717519	chr7:61857624-61857625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141197782	chr7:61857627-61857628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141599361	chr7:61857629-61857630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553621604	chr7:61857633-61857634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78432585	chr7:61857636-61857637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536794437	chr7:61857644-61857645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557012372	chr7:61857657-61857658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs1840513	chr7:61857664-61857665	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113680350	chr7:61857678-61857679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192236002	chr7:61857694-61857695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12668968	chr7:61857710-61857711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs184023778	chr7:61857721-61857722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs386713734	chr7:61857729-61857730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528277718	chr7:61857731-61857732	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:1730 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61857200-61863800	ZNF genes & repeats	Liver	Liver
2	chr7:61857400-61859000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr7:61857600-61860400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr7:61859600-61860400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:61859800-61860600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr7:61863000-61863600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr7:61863800-61865000	Weak transcription	Liver	Liver
8	chr7:61865000-61899200	ZNF genes & repeats	Liver	Liver
9	chr7:61865400-61899200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr7:61865600-61899400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:61867600-61873200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr7:61867600-61893400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr7:61867800-61880400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr7:61868000-61869800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr7:61868600-61898800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr7:61869200-61869600	Active TSS	Right Atrium	heart
17	chr7:61869400-61869800	Active TSS	Aorta	Aorta
18	chr7:61869600-61872000	Weak transcription	Right Atrium	heart
19	chr7:61869800-61871800	Weak transcription	Aorta	Aorta
20	chr7:61871800-61872600	Active TSS	Aorta	Aorta
21	chr7:61872000-61873600	Active TSS	Right Atrium	heart
22	chr7:61872600-61875200	Weak transcription	Aorta	Aorta
23	chr7:61875200-61878800	Active TSS	Aorta	Aorta
24	chr7:61876600-61877000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr7:61877200-61879800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr7:61877400-61878200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr7:61877600-61884800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:61878800-61880200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:61878800-61880800	Weak transcription	Aorta	Aorta
30	chr7:61879400-61886000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr7:61879600-61879800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr7:61880800-61881000	Active TSS	Aorta	Aorta
33	chr7:61881000-61881400	Weak transcription	Aorta	Aorta
34	chr7:61881400-61881600	Active TSS	Aorta	Aorta
35	chr7:61881600-61883600	Weak transcription	Aorta	Aorta
36	chr7:61883200-61885800	ZNF genes & repeats	Fetal Brain Male	brain
37	chr7:61883400-61883800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:61883400-61883800	Active TSS	Fetal Heart	heart
39	chr7:61883400-61883800	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr7:61883400-61898000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr7:61883600-61884200	Active TSS	Aorta	Aorta
42	chr7:61884200-61890000	Weak transcription	Aorta	Aorta
43	chr7:61884600-61886000	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr7:61887600-61888000	Active TSS	Right Atrium	heart
45	chr7:61887600-61888000	ZNF genes & repeats	HUVEC	blood vessel
46	chr7:61887600-61899800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr7:61887800-61890800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:61888000-61888200	Bivalent/Poised TSS	Right Atrium	heart
49	chr7:61890000-61890800	Active TSS	Aorta	Aorta
50	chr7:61890200-61890600	Active TSS	Right Atrium	heart

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