Variant report

Variant	nsv607169
Chromosome Location	chr7:61968118-62369218
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	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
2	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
3	chr10:42525601..42527915-chr7:61967079..61969278,2	K562	blood:
4	chr20:3786959..3788753-chr7:61967828..61969450,2	MCF-7	breast:
5	chr3:64043547..64044153-chr7:61969362..61969878,2	MCF-7	breast:
6	chr1:121483889..121484797-chr7:61974740..61975240,2	MCF-7	breast:
7	chr1:191006072..191007919-chr7:61967833..61970042,2	MCF-7	breast:
8	chr19:14627777..14629340-chr7:61968008..61969542,2	MCF-7	breast:
9	chr18:33251821..33252438-chr7:61968851..61969524,2	K562	blood:
10	chr17:73511595..73513321-chr7:61968020..61970850,2	MCF-7	breast:
11	chr7:61967856..61971070-chr8:58714316..58715816,4	K562	blood:
12	chr10:42525601..42527915-chr7:61967079..61969468,3	K562	blood:
13	chr11:63950861..63953375-chr7:61969464..61971091,2	K562	blood:
14	chr14:29714914..29715705-chr7:61970951..61971586,2	MCF-7	breast:
15	chr7:61969210..61969976-chr8:53657642..53658150,2	MCF-7	breast:
16	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
17	chr4:91025999..91028875-chr7:61969348..61970976,2	MCF-7	breast:
18	chr10:42527395..42527914-chr7:61968778..61969295,2	MCF-7	breast:
19	chr16:1429819..1431603-chr7:61967775..61969442,2	MCF-7	breast:
20	chr7:61967856..61970847-chr8:58714316..58715816,2	K562	blood:
21	chr10:42527395..42527915-chr7:61968790..61969454,6	MCF-7	breast:
22	chr10:42526395..42527915-chr7:61967791..61969507,5	MCF-7	breast:
23	chr17:59939771..59941744-chr7:61968022..61970059,2	MCF-7	breast:
24	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
25	chr18:18518513..18519030-chr7:61979393..61979915,2	MCF-7	breast:
26	chr1:149221735..149223983-chr7:61969300..61970873,2	K562	blood:
27	chr20:49942718..49943230-chr7:61968963..61969517,2	MCF-7	breast:
28	chr7:61967943..61970858-chr7:75931774..75934475,2	MCF-7	breast:
29	chr14:102551841..102553604-chr7:61969473..61971085,2	MCF-7	breast:
30	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
31	chr20:52370017..52370874-chr7:61969357..61969967,2	MCF-7	breast:
32	chr10:42527395..42527923-chr7:61968860..61969524,4	MCF-7	breast:
33	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
34	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
35	chr17:59328333..59331074-chr7:61967802..61970795,2	MCF-7	breast:
36	chr20:46692208..46692789-chr7:61968943..61969520,2	MCF-7	breast:
37	chr20:55824160..55824726-chr7:61968550..61969274,2	MCF-7	breast:
38	chr10:42527415..42527915-chr7:61968777..61969450,2	MCF-7	breast:
39	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
40	chr10:42526394..42527915-chr7:61967791..61969362,3	MCF-7	breast:
41	chr4:8654425..8657330-chr7:61967859..61969474,2	MCF-7	breast:
42	chr2:230809935..230810929-chr7:61969025..61969969,2	MCF-7	breast:
43	chr10:42527395..42527915-chr7:61970565..61971091,3	MCF-7	breast:
44	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
45	chr17:41399589..41402142-chr7:62189772..62191292,2	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	chr7:61970441-61970493	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
ENSG00000182173	chromatin interactions
ENSG00000177303	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000080824	chromatin interactions
ENSG00000099797	chromatin interactions

Extended variants
information (count: 31666 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:31666 , 50 per page) page: 1 2 3 4 5 6 7 ... 634

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7384762	chr7:61968118-61968119	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs74560338	chr7:61968119-61968120	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs570816815	chr7:61968121-61968122	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs60332391	chr7:61968127-61968128	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs76747588	chr7:61968128-61968129	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs57812761	chr7:61968134-61968135	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs55738787	chr7:61968141-61968142	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs565327610	chr7:61968148-61968149	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs62457254	chr7:61968156-61968157	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs62457255	chr7:61968157-61968158	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs58473337	chr7:61968158-61968159	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs535775344	chr7:61968161-61968162	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs62457257	chr7:61968162-61968163	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs149318733	chr7:61968163-61968164	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs80158223	chr7:61968164-61968165	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs76479099	chr7:61968166-61968167	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs79878263	chr7:61968170-61968171	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs62457258	chr7:61968174-61968175	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs76991680	chr7:61968184-61968185	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs62457259	chr7:61968188-61968189	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs76300450	chr7:61968191-61968192	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs62458760	chr7:61968196-61968197	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs565559761	chr7:61968199-61968200	ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs62458761	chr7:61968201-61968202	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs539107041	chr7:61968203-61968204	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs111347437	chr7:61968207-61968208	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs77817295	chr7:61968208-61968209	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs78920461	chr7:61968209-61968210	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs557435168	chr7:61968213-61968214	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs61692580	chr7:61968221-61968222	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs576133766	chr7:61968235-61968236	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs78586838	chr7:61968240-61968241	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs374001014	chr7:61968245-61968246	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs149893410	chr7:61968252-61968253	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs200387084	chr7:61968254-61968255	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs77570877	chr7:61968264-61968265	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs75553298	chr7:61968266-61968267	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs555379141	chr7:61968269-61968270	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs575012529	chr7:61968271-61968272	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs28893873	chr7:61968272-61968273	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs542564306	chr7:61968278-61968279	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs560636043	chr7:61968281-61968282	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs147586899	chr7:61968283-61968284	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs112626453	chr7:61968291-61968292	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs199702637	chr7:61968297-61968298	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs58990413	chr7:61968299-61968300	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs377727986	chr7:61968304-61968305	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs60755807	chr7:61968305-61968306	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs527896058	chr7:61968308-61968309	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs112045180	chr7:61968309-61968310	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	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:1452 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61967200-61968800	Weak transcription	Lung	lung
2	chr7:61967200-61968800	ZNF genes & repeats	Pancreas	Pancrea
3	chr7:61967200-61969600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
4	chr7:61967200-61969600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr7:61967200-61969600	ZNF genes & repeats	Colonic Mucosa	Colon
6	chr7:61967200-61969600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr7:61967200-61969600	ZNF genes & repeats	Stomach Mucosa	stomach
8	chr7:61967200-61969800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
9	chr7:61967200-61969800	ZNF genes & repeats	Spleen	Spleen
10	chr7:61967200-61969800	ZNF genes & repeats	Hela-S3	cervix
11	chr7:61967200-61969800	ZNF genes & repeats	HUVEC	blood vessel
12	chr7:61967200-61970000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:61967200-61970000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr7:61967200-61970000	ZNF genes & repeats	Liver	Liver
15	chr7:61967200-61970200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr7:61967200-61971600	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr7:61967200-61971800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:61967200-61972200	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr7:61967200-61973600	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr7:61967200-61973600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:61967200-61973600	ZNF genes & repeats	Gastric	stomach
22	chr7:61967200-61973600	ZNF genes & repeats	Left Ventricle	heart
23	chr7:61967200-61973800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr7:61967200-61973800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:61967200-61973800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:61967200-61973800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:61967200-61973800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr7:61967200-61973800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr7:61967200-61973800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr7:61967200-61973800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr7:61967200-61973800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr7:61967200-61973800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:61967200-61973800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr7:61967200-61973800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr7:61967200-61973800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr7:61967200-61973800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:61967200-61973800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr7:61967200-61973800	ZNF genes & repeats	HMEC	breast
39	chr7:61967200-61976600	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr7:61967400-61968800	ZNF genes & repeats	Dnd41	blood
41	chr7:61967400-61969600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
42	chr7:61967400-61970000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:61967400-61971400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr7:61967400-61973800	ZNF genes & repeats	Fetal Stomach	stomach
45	chr7:61967600-61968200	Weak transcription	Right Atrium	heart
46	chr7:61967600-61968200	Weak transcription	NHEK	skin
47	chr7:61967600-61968800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:61967600-61968800	Weak transcription	Fetal Brain Female	brain
49	chr7:61967600-61968800	Weak transcription	Right Ventricle	heart
50	chr7:61967600-61969200	Weak transcription	NHDF-Ad	bronchial

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