Variant report

Variant	nsv612046
Chromosome Location	chr8:118901928-118970300
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:118930438..118932126-chr8:119123387..119125000,2	MCF-7	breast:
2	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
3	chr8:118962356..118964780-chr8:118967876..118970039,2	K562	blood:
4	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:
5	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:
6	8:118911988-118922970..8:119208477-119211356	GM12878	blood:
7	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
8	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
9	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
10	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:
11	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
12	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
13	chr8:118874257..118874880-chr8:118929262..118930077,2	MCF-7	breast:
14	chr8:118962356..118964780-chr8:118967876..118970039,2	K562	blood:
15	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
16	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:
17	chr8:118949865..118951415-chr8:118972031..118973609,2	MCF-7	breast:
18	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:
19	chr8:118901302..118903490-chr8:119123908..119125633,2	MCF-7	breast:
20	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 2666 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:2666 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13280053	chr8:118901928-118901929	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539840685	chr8:118901966-118901967	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141743275	chr8:118901976-118901977	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562675285	chr8:118901990-118901991	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545064308	chr8:118902024-118902025	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533234309	chr8:118902025-118902026	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551714249	chr8:118902038-118902039	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566685905	chr8:118902098-118902099	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534997351	chr8:118902101-118902102	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546726303	chr8:118902102-118902103	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28357268	chr8:118902107-118902108	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557018147	chr8:118902116-118902117	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535900412	chr8:118902126-118902127	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs17475218	chr8:118902133-118902134	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116618553	chr8:118902170-118902171	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186109515	chr8:118902234-118902235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555482645	chr8:118902320-118902321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141762994	chr8:118902332-118902333	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576993278	chr8:118902395-118902396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35585827	chr8:118902432-118902433	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189297038	chr8:118902480-118902481	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569208149	chr8:118902488-118902489	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573502130	chr8:118902516-118902517	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150831060	chr8:118902533-118902534	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561535136	chr8:118902548-118902549	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573633414	chr8:118902607-118902608	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544345819	chr8:118902620-118902621	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562636733	chr8:118902684-118902685	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182037255	chr8:118902734-118902735	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139236633	chr8:118902740-118902741	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557667386	chr8:118902769-118902770	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560393845	chr8:118902772-118902773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527629519	chr8:118902776-118902777	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs17452910	chr8:118902795-118902796	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7814022	chr8:118902809-118902810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76062242	chr8:118902828-118902829	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529322083	chr8:118902835-118902836	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550678726	chr8:118902862-118902863	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9692869	chr8:118903024-118903025	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs560432676	chr8:118903037-118903038	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553542093	chr8:118903071-118903072	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376415863	chr8:118903082-118903083	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539640781	chr8:118903089-118903090	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558107862	chr8:118903100-118903101	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573411122	chr8:118903105-118903106	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542678722	chr8:118903116-118903117	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567110724	chr8:118903120-118903121	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573042439	chr8:118903153-118903154	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150019479	chr8:118903179-118903180	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368800828	chr8:118903190-118903191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2511 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
2	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:118881400-118904600	Weak transcription	Lung	lung
4	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
5	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
7	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
9	chr8:118894200-118904400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:118894600-118905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:118894800-118904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118894800-118904400	Weak transcription	NH-A	brain
14	chr8:118894800-118905200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:118894800-118905600	Weak transcription	HMEC	breast
16	chr8:118896200-118904400	Weak transcription	NHDF-Ad	bronchial
17	chr8:118896600-118902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:118896600-118903000	Weak transcription	NHEK	skin
19	chr8:118896800-118902600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:118896800-118904400	Weak transcription	Pancreas	Pancrea
21	chr8:118896800-118905400	Weak transcription	Stomach Mucosa	stomach
22	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:118897200-118903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:118897400-118903800	Weak transcription	NHLF	lung
25	chr8:118897600-118908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:118899000-118902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:118899000-118902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:118899000-118907000	Weak transcription	HUVEC	blood vessel
29	chr8:118899400-118904400	Weak transcription	Liver	Liver
30	chr8:118900200-118907800	Weak transcription	Primary T cells from cord blood	blood
31	chr8:118900400-118905600	Weak transcription	HSMMtube	muscle
32	chr8:118900600-118904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:118901200-118902200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:118901200-118903400	Weak transcription	Fetal Heart	heart
35	chr8:118901400-118902000	Enhancers	Osteobl	bone
36	chr8:118901400-118902600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:118901400-118904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:118901400-118905200	Weak transcription	Fetal Lung	lung
39	chr8:118901400-118905600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:118901600-118902200	Strong transcription	HSMM	muscle
41	chr8:118901600-118904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:118901600-118905800	Weak transcription	Aorta	Aorta
43	chr8:118901600-118908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:118901600-118908800	Weak transcription	Fetal Intestine Small	intestine
45	chr8:118901600-118909200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:118901800-118902600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:118901800-118908600	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:118902000-118902400	Weak transcription	Osteobl	bone
49	chr8:118902200-118904400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:118902200-118904400	Weak transcription	HSMM	muscle

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