Variant report

Variant	nsv5905
Chromosome Location	chr7:112445425-112521797
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:12)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:112428959..112431266-chr7:112462884..112465767,2	K562	blood:
2	chr7:112509083..112509822-chr7:112654779..112655292,2	MCF-7	breast:
3	chr7:112440427..112442573-chr7:112447288..112451136,3	K562	blood:
4	chr7:112389521..112390528-chr7:112508265..112509860,9	MCF-7	breast:
5	chr7:112469510..112471987-chr7:112486621..112488702,2	K562	blood:
6	chr7:112503704..112506152-chr7:112507913..112510486,2	MCF-7	breast:
7	chr7:112469172..112470968-chr7:112479580..112481135,2	K562	blood:
8	chr7:112464327..112467031-chr7:112469420..112472125,2	K562	blood:
9	chr7:112490671..112492879-chr7:112499441..112501891,2	K562	blood:
10	chr7:112190230..112191165-chr7:112508564..112509921,10	K562	blood:
11	chr7:112211907..112212896-chr7:112508888..112509884,4	MCF-7	breast:
12	chr7:112508990..112509770-chr7:112753662..112754585,2	MCF-7	breast:
13	chr7:112460967..112462582-chr7:112467318..112468834,2	MCF-7	breast:
14	chr7:112305423..112306481-chr7:112508898..112509857,8	MCF-7	breast:
15	chr7:112432334..112434564-chr7:112518600..112520396,2	K562	blood:
16	chr7:112469172..112470968-chr7:112479580..112481135,2	K562	blood:
17	chr7:112429306..112431701-chr7:112443388..112445678,2	MCF-7	breast:
18	chr7:112457341..112459401-chr7:112460833..112463216,2	K562	blood:
19	chr7:112306398..112307011-chr7:112509008..112509651,2	MCF-7	breast:
20	chr7:112430328..112432743-chr7:112492243..112495495,3	MCF-7	breast:
21	chr7:112497079..112499499-chr7:112502379..112504783,2	K562	blood:
22	chr7:112429147..112431739-chr7:112516354..112518877,2	MCF-7	breast:
23	chr7:112490671..112492879-chr7:112499441..112501891,2	K562	blood:
24	chr7:112497079..112499499-chr7:112502379..112504783,2	K562	blood:
25	chr7:112460967..112462582-chr7:112467318..112468834,2	MCF-7	breast:
26	chr7:112428694..112430308-chr7:112506814..112508918,2	K562	blood:
27	chr7:112430477..112433385-chr7:112446391..112449066,2	K562	blood:
28	chr7:112488410..112491368-chr7:112494033..112497083,3	K562	blood:
29	chr7:112469510..112471987-chr7:112486621..112488702,2	K562	blood:
30	chr7:112189971..112191181-chr7:112508937..112509930,9	MCF-7	breast:
31	chr7:112464327..112467031-chr7:112469420..112472125,2	K562	blood:
32	chr7:112509021..112509888-chr7:112538291..112539352,5	MCF-7	breast:
33	chr7:112509019..112509890-chr8:140338771..140339590,2	MCF-7	breast:
34	chr7:112445350..112448501-chr7:112449970..112452849,3	K562	blood:
35	chr7:112509437..112512329-chr7:112546581..112549311,2	K562	blood:
36	chr7:112194401..112194965-chr7:112509215..112509795,2	MCF-7	breast:
37	chr17:61014386..61015185-chr7:112519778..112520466,2	MCF-7	breast:
38	chr7:112427720..112431505-chr7:112447113..112451957,4	K562	blood:
39	chr7:112397841..112400405-chr7:112497417..112499192,2	K562	blood:
40	chr7:112503704..112506152-chr7:112507913..112510486,2	MCF-7	breast:
41	chr7:112399108..112401313-chr7:112509373..112511172,2	K562	blood:
42	chr7:112190093..112191109-chr7:112508990..112509753,4	MCF-7	breast:
43	chr7:112477234..112479370-chr7:112580510..112582070,2	K562	blood:
44	chr7:112234356..112236045-chr7:112509200..112510734,2	K562	blood:
45	chr7:112457341..112459401-chr7:112460833..112463216,2	K562	blood:
46	chr7:112305574..112306293-chr7:112509023..112509886,2	MCF-7	breast:
47	chr7:112509091..112509840-chr7:113061486..113062019,3	MCF-7	breast:
48	chr7:112488410..112491368-chr7:112494033..112497083,3	K562	blood:
49	chr7:112431532..112434194-chr7:112463729..112466329,2	K562	blood:
50	chr7:112439935..112445178-chr7:112445414..112449539,5	K562	blood:

No data

(count:12 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	C7orf60	hsa-let-7a-5p	chr7:112460505-112460499
2	C7orf60	hsa-miR-130b-3p	chr7:112461417-112461411
3	C7orf60	hsa-miR-186-5p	chr7:112461629-112461648
4	C7orf60	hsa-miR-186-5p	chr7:112461232-112461253
5	C7orf60	hsa-miR-130b-3p	chr7:112461411-112461432
6	C7orf60	hsa-miR-130b-3p	chr7:112460487-112460481
7	C7orf60	hsa-miR-130b-3p	chr7:112460941-112460966
8	C7orf60	hsa-miR-130b-3p	chr7:112460481-112460502
9	C7orf60	hsa-miR-186-5p	chr7:112460090-112460113
10	C7orf60	hsa-let-7a-5p	chr7:112460500-112460523
11	C7orf60	hsa-miR-130b-3p	chr7:112460947-112460941
12	C7orf60	hsa-miR-130b-3p	chr7:112459535-112459557

Variant related genes	Relation type
ENSG00000146802	chromatin interactions

Extended variants
information (count: 2600 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2600 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539693928	chr7:112445436-112445437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539772992	chr7:112445496-112445497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576146030	chr7:112445537-112445538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181686833	chr7:112445544-112445545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138809114	chr7:112445600-112445601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573739006	chr7:112445611-112445612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558583963	chr7:112445638-112445639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140563259	chr7:112445653-112445654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559669718	chr7:112445699-112445700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373513393	chr7:112445700-112445701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144862629	chr7:112445701-112445702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185117384	chr7:112445717-112445718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544276309	chr7:112445728-112445729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555275759	chr7:112445769-112445770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563731104	chr7:112445826-112445827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148282592	chr7:112445827-112445828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549941184	chr7:112445828-112445829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568143660	chr7:112445884-112445885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534998960	chr7:112445946-112445947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574510568	chr7:112446113-112446114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565638325	chr7:112446286-112446287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189478225	chr7:112446324-112446325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553639499	chr7:112446331-112446332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373024315	chr7:112446361-112446362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73205178	chr7:112446400-112446401	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555477253	chr7:112446521-112446522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573816406	chr7:112446601-112446602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541091642	chr7:112446638-112446639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181831199	chr7:112446701-112446702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560114940	chr7:112446761-112446762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73205179	chr7:112446801-112446802	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9649357	chr7:112446845-112446846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115407738	chr7:112446859-112446860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531161371	chr7:112446867-112446868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185371433	chr7:112447017-112447018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561441168	chr7:112447052-112447053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189788489	chr7:112447064-112447065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552096073	chr7:112447079-112447080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547430818	chr7:112447091-112447092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565546440	chr7:112447092-112447093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181517662	chr7:112447118-112447119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375479462	chr7:112447249-112447250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551427463	chr7:112447266-112447267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569600927	chr7:112447347-112447348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536918500	chr7:112447348-112447349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79203336	chr7:112447355-112447356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567082061	chr7:112447369-112447370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186337277	chr7:112447481-112447482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540806530	chr7:112447527-112447528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192050666	chr7:112447556-112447557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112442800-112472800	Weak transcription	Lung	lung
2	chr7:112449200-112449800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:112449600-112450000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:112449600-112450000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:112449600-112450200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:112449800-112450000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:112450000-112452800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:112450000-112453000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:112451200-112469200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:112452800-112453000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:112454800-112458600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:112454800-112463200	Weak transcription	HUVEC	blood vessel
13	chr7:112455400-112457600	Weak transcription	Primary B cells from cord blood	blood
14	chr7:112455400-112467600	Weak transcription	Primary T cells from cord blood	blood
15	chr7:112455800-112458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:112456000-112461800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:112456000-112461800	Weak transcription	Left Ventricle	heart
18	chr7:112456000-112465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:112456200-112459600	Weak transcription	Fetal Lung	lung
20	chr7:112456200-112461600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:112456200-112467800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:112456200-112468600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:112456400-112458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:112456400-112467800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:112456400-112470000	Weak transcription	Right Ventricle	heart
26	chr7:112456600-112461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:112456600-112468000	Weak transcription	HSMMtube	muscle
28	chr7:112456600-112470200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:112456800-112464800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:112456800-112465200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:112457000-112461800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:112457000-112464400	Weak transcription	Fetal Stomach	stomach
33	chr7:112457200-112460400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:112457200-112461600	Weak transcription	Liver	Liver
35	chr7:112457200-112461800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:112457200-112461800	Weak transcription	Dnd41	blood
37	chr7:112457200-112461800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:112457200-112465200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:112457200-112468000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:112457200-112468400	Weak transcription	Fetal Brain Male	brain
41	chr7:112457200-112469600	Weak transcription	Ovary	ovary
42	chr7:112457200-112470000	Weak transcription	Fetal Thymus	thymus
43	chr7:112457400-112461400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:112457400-112461800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:112457400-112468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:112457600-112458000	ZNF genes & repeats	Aorta	Aorta
47	chr7:112457600-112461800	Weak transcription	Adipose Nuclei	Adipose
48	chr7:112457600-112464400	Strong transcription	Primary B cells from cord blood	blood
49	chr7:112457600-112468400	Weak transcription	GM12878-XiMat	blood
50	chr7:112457600-112469400	Weak transcription	Brain Germinal Matrix	brain

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