Variant report

Variant	nsv608305
Chromosome Location	chr7:118853257-119027884
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:118878113..118880101-chr7:118887192..118890136,2	K562	blood:
2	chr7:118878113..118880101-chr7:118887192..118890136,2	K562	blood:
3	chr7:118997927..118999902-chr7:119000028..119001713,2	K562	blood:
4	chr7:118909733..118910708-chr7:145816212..145816735,2	MCF-7	breast:
5	chr7:118902822..118906670-chr7:118907606..118911086,3	K562	blood:
6	chr7:118938874..118939826-chr7:129751362..129752092,2	MCF-7	breast:
7	chr7:118852197..118855111-chr7:118862886..118865559,2	K562	blood:
8	chr7:118917919..118920251-chr7:118925221..118926809,2	K562	blood:
9	chr7:118902822..118906670-chr7:118907606..118911086,3	K562	blood:
10	chr7:118997927..118999902-chr7:119000028..119001713,2	K562	blood:
11	chr7:118857357..118859002-chr8:11343082..11345568,2	MCF-7	breast:
12	chr2:32036680..32037459-chr7:119025565..119026383,2	MCF-7	breast:
13	chr7:118917919..118920251-chr7:118925221..118926809,2	K562	blood:
14	chr6:30580881..30583485-chr7:118868073..118870261,2	MCF-7	breast:
15	chr7:118910028..118911067-chr7:119729751..119730686,4	MCF-7	breast:
16	chr7:118910007..118910665-chr7:120194855..120195659,2	MCF-7	breast:
17	chr7:118852197..118855111-chr7:118862886..118865559,2	K562	blood:

No data

Extended variants
information (count: 555 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189183291	chr7:118872267-118872268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113288158	chr7:118872285-118872286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531926964	chr7:118872339-118872340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548626878	chr7:118872371-118872372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187314226	chr7:118872387-118872388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10215330	chr7:118872411-118872412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546625953	chr7:118872431-118872432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566427915	chr7:118872480-118872481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570879007	chr7:118872570-118872571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139521753	chr7:118872571-118872572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558610725	chr7:118872582-118872583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572221318	chr7:118872615-118872616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534916720	chr7:118872637-118872638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568991281	chr7:118872680-118872681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575225595	chr7:118872682-118872683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553571239	chr7:118872742-118872743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191016372	chr7:118872745-118872746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540549500	chr7:118872774-118872775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568792948	chr7:118872778-118872779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149714492	chr7:118872916-118872917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574692597	chr7:118872926-118872927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80004496	chr7:118872938-118872939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553755242	chr7:118872958-118872959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540827533	chr7:118873020-118873021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376431954	chr7:118873021-118873022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181034850	chr7:118873038-118873039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545936488	chr7:118873056-118873057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562987537	chr7:118873063-118873064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531681473	chr7:118873077-118873078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542422723	chr7:118873088-118873089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111775287	chr7:118873090-118873091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148481803	chr7:118873110-118873111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185539068	chr7:118873187-118873188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73718698	chr7:118873242-118873243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577555380	chr7:118873255-118873256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145319348	chr7:118873268-118873269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190253536	chr7:118873269-118873270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182916620	chr7:118873285-118873286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537510230	chr7:118873320-118873321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545135960	chr7:118873323-118873324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575997247	chr7:118873326-118873327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548375540	chr7:118873347-118873348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567869953	chr7:118873378-118873379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564834407	chr7:118873389-118873390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530484050	chr7:118873442-118873443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147644417	chr7:118873448-118873449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553643157	chr7:118873516-118873517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550180147	chr7:118873531-118873532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141496183	chr7:118873577-118873578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547649762	chr7:118889041-118889042	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118872200-118873600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:118872600-118873600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:118889000-118889800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:118889600-118890000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:118892800-118893800	Enhancers	Fetal Heart	heart
6	chr7:118905200-118906400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:118906000-118906400	Enhancers	Liver	Liver
8	chr7:118906400-118906600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:118906400-118907200	Flanking Active TSS	Liver	Liver
10	chr7:118906600-118906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:118907200-118907600	Enhancers	Liver	Liver
12	chr7:118907600-118909800	Weak transcription	Liver	Liver
13	chr7:118909800-118910800	Enhancers	Liver	Liver
14	chr7:118910200-118911000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:118910200-118911200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:118910200-118911400	Enhancers	HMEC	breast
17	chr7:118910200-118911800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:118910600-118911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:118910800-118911200	Enhancers	Lung	lung
20	chr7:118921400-118921800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:118921400-118921800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:118921400-118921800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:118927800-118928400	Enhancers	Fetal Brain Male	brain
24	chr7:118952200-118952800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:118965000-118965200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:118965200-118965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:118970600-118971000	Enhancers	Brain Substantia Nigra	brain
28	chr7:118981600-118984200	Enhancers	Liver	Liver
29	chr7:118990400-118990800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:118991400-118991600	Enhancers	Liver	Liver
31	chr7:118991400-118991600	ZNF genes & repeats	Esophagus	oesophagus
32	chr7:118992200-118992400	Enhancers	Liver	Liver
33	chr7:118996800-118997200	Active TSS	Gastric	stomach

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