Variant report

Variant	nsv1026431
Chromosome Location	chr7:61839483-62054763
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:37)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 19549 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:19549 , 50 per page) page: 1 2 3 4 5 6 7 ... 391

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530110781	chr7:61845605-61845606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62456939	chr7:61845634-61845635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369629281	chr7:61845644-61845645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368713708	chr7:61845680-61845681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537316771	chr7:61845691-61845692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs78605252	chr7:61845695-61845696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566684025	chr7:61845701-61845702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76182879	chr7:61845705-61845706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73123645	chr7:61845709-61845710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527451186	chr7:61845713-61845714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201585774	chr7:61845718-61845719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs199578940	chr7:61845722-61845723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs371422432	chr7:61845724-61845725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79144336	chr7:61845731-61845732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376709114	chr7:61845733-61845734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368777278	chr7:61845738-61845739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552454923	chr7:61845741-61845742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372169977	chr7:61845742-61845743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs376788303	chr7:61845751-61845752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369666655	chr7:61845754-61845755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373536735	chr7:61845756-61845757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376977494	chr7:61845758-61845759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369952288	chr7:61845759-61845760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373427356	chr7:61845764-61845765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs375790319	chr7:61845766-61845767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370087792	chr7:61845768-61845769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374072526	chr7:61845772-61845773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377127658	chr7:61845774-61845775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370837670	chr7:61845777-61845778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375014523	chr7:61845781-61845782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs368363824	chr7:61845801-61845802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs372918185	chr7:61845807-61845808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376061178	chr7:61845814-61845815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs367783855	chr7:61845819-61845820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs570646598	chr7:61845837-61845838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62456955	chr7:61845844-61845845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371533218	chr7:61845862-61845863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537888334	chr7:61845886-61845887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369620367	chr7:61845889-61845890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556175765	chr7:61845894-61845895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1960772	chr7:61845905-61845906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs568194625	chr7:61845915-61845916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535558344	chr7:61845932-61845933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62456956	chr7:61845938-61845939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553557647	chr7:61845948-61845949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573387583	chr7:61845955-61845956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs62456957	chr7:61845962-61845963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540428877	chr7:61845972-61845973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112886234	chr7:61845973-61845974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112382975	chr7:61845976-61845977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:1453 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61845600-61846400	ZNF genes & repeats	Liver	Liver
2	chr7:61845600-61847000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr7:61845600-61847800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr7:61845600-61848400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:61845800-61846600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr7:61845800-61848400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:61857200-61863800	ZNF genes & repeats	Liver	Liver
8	chr7:61857400-61859000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr7:61857600-61860400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:61859600-61860400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:61859800-61860600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr7:61863000-61863600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr7:61863800-61865000	Weak transcription	Liver	Liver
14	chr7:61865000-61899200	ZNF genes & repeats	Liver	Liver
15	chr7:61865400-61899200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr7:61865600-61899400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:61867600-61873200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr7:61867600-61893400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr7:61867800-61880400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr7:61868000-61869800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr7:61868600-61898800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr7:61869200-61869600	Active TSS	Right Atrium	heart
23	chr7:61869400-61869800	Active TSS	Aorta	Aorta
24	chr7:61869600-61872000	Weak transcription	Right Atrium	heart
25	chr7:61869800-61871800	Weak transcription	Aorta	Aorta
26	chr7:61871800-61872600	Active TSS	Aorta	Aorta
27	chr7:61872000-61873600	Active TSS	Right Atrium	heart
28	chr7:61872600-61875200	Weak transcription	Aorta	Aorta
29	chr7:61875200-61878800	Active TSS	Aorta	Aorta
30	chr7:61876600-61877000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
31	chr7:61877200-61879800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr7:61877400-61878200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr7:61877600-61884800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:61878800-61880200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:61878800-61880800	Weak transcription	Aorta	Aorta
36	chr7:61879400-61886000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr7:61879600-61879800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr7:61880800-61881000	Active TSS	Aorta	Aorta
39	chr7:61881000-61881400	Weak transcription	Aorta	Aorta
40	chr7:61881400-61881600	Active TSS	Aorta	Aorta
41	chr7:61881600-61883600	Weak transcription	Aorta	Aorta
42	chr7:61883200-61885800	ZNF genes & repeats	Fetal Brain Male	brain
43	chr7:61883400-61883800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:61883400-61883800	Active TSS	Fetal Heart	heart
45	chr7:61883400-61883800	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr7:61883400-61898000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr7:61883600-61884200	Active TSS	Aorta	Aorta
48	chr7:61884200-61890000	Weak transcription	Aorta	Aorta
49	chr7:61884600-61886000	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr7:61887600-61888000	Active TSS	Right Atrium	heart

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