Variant report

Variant	nsv1032355
Chromosome Location	chr8:118896733-119003223
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
2	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:
3	chr8:118962356..118964780-chr8:118967876..118970039,2	K562	blood:
4	chr8:118895392..118899100-chr8:119122968..119125162,4	MCF-7	breast:
5	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:
6	chr8:118949865..118951415-chr8:118972031..118973609,2	MCF-7	breast:
7	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
8	chr8:118976562..118978924-chr8:118986229..118989159,2	MCF-7	breast:
9	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:
10	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
11	chr8:118949865..118951415-chr8:118972031..118973609,2	MCF-7	breast:
12	chr8:118897210..118898934-chr8:119121979..119124377,2	MCF-7	breast:
13	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
14	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
15	chr8:118901302..118903490-chr8:119123908..119125633,2	MCF-7	breast:
16	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:
17	chr8:118999516..119001908-chr8:119020694..119023645,2	MCF-7	breast:
18	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:
19	8:118911988-118922970..8:119208477-119211356	GM12878	blood:
20	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:
21	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
22	chr8:118990517..118992059-chr8:119122818..119125739,2	MCF-7	breast:
23	chr8:118976562..118978924-chr8:118986229..118989159,2	MCF-7	breast:
24	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:
25	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:
26	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
27	chr8:118894308..118897199-chr8:119123485..119125285,2	MCF-7	breast:
28	chr8:118896198..118897114-chr8:119037614..119038165,2	MCF-7	breast:
29	chr8:118930438..118932126-chr8:119123387..119125000,2	MCF-7	breast:
30	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
31	chr8:118896207..118897097-chr8:119132804..119133487,2	MCF-7	breast:
32	chr8:119000472..119003306-chr8:119019524..119021773,2	MCF-7	breast:
33	chr8:118998954..119002808-chr8:119123412..119126433,4	MCF-7	breast:
34	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:
35	chr8:118874257..118874880-chr8:118929262..118930077,2	MCF-7	breast:
36	chr8:118962356..118964780-chr8:118967876..118970039,2	K562	blood:
37	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:
38	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 4076 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:4076 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142959420	chr8:118896751-118896752	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539518055	chr8:118896752-118896753	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371316493	chr8:118896817-118896818	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556451460	chr8:118896911-118896912	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534378776	chr8:118896927-118896928	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555729086	chr8:118896929-118896930	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567937919	chr8:118896945-118896946	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575489103	chr8:118896987-118896988	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192804888	chr8:118897012-118897013	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374809548	chr8:118897016-118897017	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577737647	chr8:118897027-118897028	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143499316	chr8:118897035-118897036	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183650774	chr8:118897110-118897111	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188530679	chr8:118897123-118897124	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs193236851	chr8:118897228-118897229	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146266079	chr8:118897238-118897239	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564269052	chr8:118897277-118897278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140049178	chr8:118897511-118897512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs17475176	chr8:118897518-118897519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533140271	chr8:118897529-118897530	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17503997	chr8:118897547-118897548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566621118	chr8:118897577-118897578	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs17479523	chr8:118897589-118897590	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548268915	chr8:118897607-118897608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12543508	chr8:118897663-118897664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs540241204	chr8:118897686-118897687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35870282	chr8:118897700-118897701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567768086	chr8:118897702-118897703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374867878	chr8:118897732-118897733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367842600	chr8:118897734-118897735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76846423	chr8:118897749-118897750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs60550814	chr8:118897751-118897752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373652992	chr8:118897752-118897753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538504705	chr8:118897766-118897767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148956317	chr8:118897798-118897799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs367898272	chr8:118897834-118897835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35243381	chr8:118897838-118897839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572008160	chr8:118897902-118897903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538616563	chr8:118897922-118897923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553850470	chr8:118897946-118897947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572099581	chr8:118897960-118897961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530901035	chr8:118897978-118897979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575425139	chr8:118897985-118897986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544280532	chr8:118898073-118898074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543246772	chr8:118898112-118898113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564812845	chr8:118898127-118898128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188172446	chr8:118898183-118898184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191489569	chr8:118898188-118898189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559734213	chr8:118898217-118898218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs17504011	chr8:118898244-118898245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:3788 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

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	chr8:118892600-118898600	Weak transcription	Small Intestine	intestine
10	chr8:118893200-118897200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:118894000-118897000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:118894200-118896800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:118894200-118896800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:118894200-118898000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:118894200-118901200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:118894200-118901200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:118894200-118904400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:118894400-118896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:118894600-118905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:118894800-118898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:118894800-118900600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:118894800-118904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:118894800-118904400	Weak transcription	NH-A	brain
25	chr8:118894800-118905200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:118894800-118905600	Weak transcription	HMEC	breast
27	chr8:118895400-118896800	Enhancers	Fetal Lung	lung
28	chr8:118895400-118897000	Enhancers	Fetal Intestine Large	intestine
29	chr8:118895400-118899200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:118895400-118899400	Enhancers	Liver	Liver
31	chr8:118895600-118897200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:118895600-118897200	Enhancers	Aorta	Aorta
33	chr8:118895600-118900800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:118895800-118896800	Enhancers	Pancreas	Pancrea
35	chr8:118895800-118896800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:118895800-118897000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:118895800-118897200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:118895800-118897400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:118895800-118897400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:118895800-118897600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:118896000-118896800	Enhancers	Colonic Mucosa	Colon
42	chr8:118896000-118897000	Enhancers	Fetal Intestine Small	intestine
43	chr8:118896000-118897000	Weak transcription	NHLF	lung
44	chr8:118896000-118897200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:118896000-118897200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:118896000-118901000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:118896200-118897000	Enhancers	HepG2	liver
48	chr8:118896200-118900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:118896200-118904400	Weak transcription	NHDF-Ad	bronchial
50	chr8:118896400-118896800	Enhancers	Stomach Mucosa	stomach

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