Variant report

Variant	nsv1017346
Chromosome Location	chr7:61875418-62369822
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	chr10:42525601..42527915-chr7:61967079..61969278,2	K562	blood:
2	chr4:91025999..91028875-chr7:61969348..61970976,2	MCF-7	breast:
3	chr10:42527395..42527915-chr7:61970565..61971091,3	MCF-7	breast:
4	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
5	chr17:73511595..73513321-chr7:61968020..61970850,2	MCF-7	breast:
6	chr7:61967943..61970858-chr7:75931774..75934475,2	MCF-7	breast:
7	chr4:8654425..8657330-chr7:61967859..61969474,2	MCF-7	breast:
8	chr10:42527415..42527915-chr7:61968777..61969450,2	MCF-7	breast:
9	chr7:61967856..61970847-chr8:58714316..58715816,2	K562	blood:
10	chr10:42527395..42527915-chr7:61968790..61969454,6	MCF-7	breast:
11	chr20:46692208..46692789-chr7:61968943..61969520,2	MCF-7	breast:
12	chr10:42525601..42527915-chr7:61967079..61969468,3	K562	blood:
13	chr19:14627777..14629340-chr7:61968008..61969542,2	MCF-7	breast:
14	chr7:61967856..61971070-chr8:58714316..58715816,4	K562	blood:
15	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
16	chr3:64043547..64044153-chr7:61969362..61969878,2	MCF-7	breast:
17	chr10:42527395..42527914-chr7:61968778..61969295,2	MCF-7	breast:
18	chr18:33251821..33252438-chr7:61968851..61969524,2	K562	blood:
19	chr16:1429819..1431603-chr7:61967775..61969442,2	MCF-7	breast:
20	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
21	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
22	chr17:59328333..59331074-chr7:61967802..61970795,2	MCF-7	breast:
23	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
24	chr11:63950861..63953375-chr7:61969464..61971091,2	K562	blood:
25	chr10:42526395..42527915-chr7:61967791..61969507,5	MCF-7	breast:
26	chr2:230809935..230810929-chr7:61969025..61969969,2	MCF-7	breast:
27	chr10:42526394..42527915-chr7:61967791..61969362,3	MCF-7	breast:
28	chr18:18518513..18519030-chr7:61979393..61979915,2	MCF-7	breast:
29	chr14:29714914..29715705-chr7:61970951..61971586,2	MCF-7	breast:
30	chr20:55824160..55824726-chr7:61968550..61969274,2	MCF-7	breast:
31	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
32	chr7:61969210..61969976-chr8:53657642..53658150,2	MCF-7	breast:
33	chr20:52370017..52370874-chr7:61969357..61969967,2	MCF-7	breast:
34	chr20:3786959..3788753-chr7:61967828..61969450,2	MCF-7	breast:
35	chr1:191006072..191007919-chr7:61967833..61970042,2	MCF-7	breast:
36	chr14:102551841..102553604-chr7:61969473..61971085,2	MCF-7	breast:
37	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
38	chr1:149221735..149223983-chr7:61969300..61970873,2	K562	blood:
39	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
40	chr10:42527395..42527923-chr7:61968860..61969524,4	MCF-7	breast:
41	chr17:59939771..59941744-chr7:61968022..61970059,2	MCF-7	breast:
42	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
43	chr1:121483889..121484797-chr7:61974740..61975240,2	MCF-7	breast:
44	chr20:49942718..49943230-chr7:61968963..61969517,2	MCF-7	breast:
45	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:

(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	chr7:61971118-61971191	NONHSAT120885
3	lnc-AC006455.1-12	chr7:61970441-61970493	NONHSAT120885
4	lnc-AC006455.1-12	chr7:61969203-61969572	NONHSAT120885

No data

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

Extended variants
information (count: 35538 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:35538 , 50 per page) page: 1 2 3 4 5 6 7 ... 711

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559054040	chr7:61875428-61875429	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs199500488	chr7:61875462-61875463	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370086119	chr7:61875466-61875467	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200910929	chr7:61875475-61875476	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544370093	chr7:61875480-61875481	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188200232	chr7:61875483-61875484	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565279655	chr7:61875505-61875506	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs541449575	chr7:61875540-61875541	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559712122	chr7:61875543-61875544	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527423424	chr7:61875576-61875577	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551863870	chr7:61875587-61875588	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570478934	chr7:61875595-61875596	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs113741869	chr7:61875596-61875597	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532617461	chr7:61875599-61875600	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551119927	chr7:61875618-61875619	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569484360	chr7:61875661-61875662	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs536942606	chr7:61875667-61875668	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555044464	chr7:61875695-61875696	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566883227	chr7:61875726-61875727	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534137442	chr7:61875751-61875752	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558807126	chr7:61875758-61875759	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191797822	chr7:61875767-61875768	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537681452	chr7:61875773-61875774	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs207467959	chr7:61875779-61875780	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10241949	chr7:61875783-61875784	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574435183	chr7:61875785-61875786	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10232419	chr7:61875792-61875793	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531713283	chr7:61875799-61875800	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559972369	chr7:61875801-61875802	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571710149	chr7:61875808-61875809	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545365479	chr7:61875820-61875821	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146431674	chr7:61875834-61875835	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531419597	chr7:61875883-61875884	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs60053537	chr7:61875884-61875885	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550940626	chr7:61875894-61875895	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183602955	chr7:61875896-61875897	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563087945	chr7:61875898-61875899	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530278361	chr7:61875908-61875909	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs114831735	chr7:61875915-61875916	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs567143912	chr7:61875938-61875939	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534201655	chr7:61875942-61875943	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552530486	chr7:61875960-61875961	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs59850673	chr7:61875970-61875971	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570888419	chr7:61875973-61875974	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs538331580	chr7:61875980-61875981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371974971	chr7:61875991-61875992	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574299559	chr7:61875994-61875995	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375556828	chr7:61876013-61876014	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs553671423	chr7:61876070-61876071	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186789454	chr7:61876077-61876078	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:1619 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61865000-61899200	ZNF genes & repeats	Liver	Liver
2	chr7:61865400-61899200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:61865600-61899400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:61867600-61893400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr7:61867800-61880400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr7:61868600-61898800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr7:61875200-61878800	Active TSS	Aorta	Aorta
8	chr7:61876600-61877000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
9	chr7:61877200-61879800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr7:61877400-61878200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr7:61877600-61884800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:61878800-61880200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:61878800-61880800	Weak transcription	Aorta	Aorta
14	chr7:61879400-61886000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr7:61879600-61879800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr7:61880800-61881000	Active TSS	Aorta	Aorta
17	chr7:61881000-61881400	Weak transcription	Aorta	Aorta
18	chr7:61881400-61881600	Active TSS	Aorta	Aorta
19	chr7:61881600-61883600	Weak transcription	Aorta	Aorta
20	chr7:61883200-61885800	ZNF genes & repeats	Fetal Brain Male	brain
21	chr7:61883400-61883800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:61883400-61883800	Active TSS	Fetal Heart	heart
23	chr7:61883400-61883800	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr7:61883400-61898000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr7:61883600-61884200	Active TSS	Aorta	Aorta
26	chr7:61884200-61890000	Weak transcription	Aorta	Aorta
27	chr7:61884600-61886000	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr7:61887600-61888000	Active TSS	Right Atrium	heart
29	chr7:61887600-61888000	ZNF genes & repeats	HUVEC	blood vessel
30	chr7:61887600-61899800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr7:61887800-61890800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:61888000-61888200	Bivalent/Poised TSS	Right Atrium	heart
33	chr7:61890000-61890800	Active TSS	Aorta	Aorta
34	chr7:61890200-61890600	Active TSS	Right Atrium	heart
35	chr7:61890800-61892000	Weak transcription	Aorta	Aorta
36	chr7:61891600-61893400	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
37	chr7:61892000-61892400	ZNF genes & repeats	Aorta	Aorta
38	chr7:61892000-61893200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:61892400-61893000	Active TSS	Aorta	Aorta
40	chr7:61894600-61895200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr7:61894600-61899200	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr7:61894800-61896600	ZNF genes & repeats	Fetal Brain Male	brain
43	chr7:61895000-61898000	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr7:61897800-61898000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:61898000-61898600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
46	chr7:61902600-61917200	ZNF genes & repeats	Liver	Liver
47	chr7:61903200-61916800	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr7:61903400-61916200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr7:61903400-61917000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr7:61903800-61905200	Active TSS	Aorta	Aorta

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