Variant report

Variant	nsv612026
Chromosome Location	chr8:118871476-118875535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:118874390..118877427-chr8:119122549..119125397,3	MCF-7	breast:
2	chr8:118874257..118874880-chr8:118929262..118930077,2	MCF-7	breast:
3	chr8:118874293..118875149-chr8:119132498..119133544,7	MCF-7	breast:
4	chr8:118875478..118876394-chr8:119340079..119340635,2	MCF-7	breast:
5	chr8:118875517..118876420-chr8:119426479..119427389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4463453	chr8:118871476-118871477	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369632787	chr8:118871539-118871540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183775149	chr8:118871567-118871568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541770503	chr8:118871601-118871602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534524398	chr8:118871621-118871622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552690492	chr8:118871640-118871641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574413627	chr8:118871689-118871690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537877788	chr8:118871692-118871693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558127172	chr8:118871696-118871697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541519720	chr8:118871757-118871758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563398450	chr8:118871801-118871802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143062795	chr8:118871824-118871825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148250031	chr8:118871902-118871903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188451571	chr8:118871914-118871915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373894426	chr8:118871945-118871946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528367260	chr8:118871960-118871961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546916297	chr8:118871961-118871962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141250161	chr8:118871995-118871996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530111877	chr8:118872045-118872046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56024948	chr8:118872072-118872073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12674989	chr8:118872112-118872113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55937833	chr8:118872152-118872153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570148220	chr8:118872194-118872195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181174300	chr8:118872198-118872199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552779030	chr8:118872243-118872244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377280834	chr8:118872252-118872253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571104693	chr8:118872294-118872295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60499848	chr8:118872297-118872298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185776062	chr8:118872303-118872304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577898993	chr8:118872318-118872319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540479531	chr8:118872321-118872322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191688452	chr8:118872327-118872328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535448883	chr8:118872333-118872334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143043738	chr8:118872342-118872343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34864093	chr8:118872385-118872386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34399339	chr8:118872386-118872387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398009539	chr8:118872409-118872410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370195352	chr8:118872415-118872416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574973556	chr8:118872480-118872481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147458495	chr8:118872560-118872561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7008526	chr8:118872571-118872572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368752476	chr8:118872574-118872575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572713276	chr8:118872595-118872596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573474071	chr8:118872607-118872608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17452840	chr8:118872622-118872623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181746803	chr8:118872661-118872662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373062243	chr8:118872678-118872679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143922327	chr8:118872688-118872689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377431558	chr8:118872718-118872719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370481298	chr8:118872741-118872742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

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

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118860800-118874800	Weak transcription	Lung	lung
2	chr8:118861000-118874200	Weak transcription	A549	lung
3	chr8:118861200-118875000	Weak transcription	Right Ventricle	heart
4	chr8:118861400-118872400	Weak transcription	Aorta	Aorta
5	chr8:118861400-118878600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:118861600-118876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:118861600-118878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:118863200-118872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:118863200-118874400	Weak transcription	Stomach Mucosa	stomach
10	chr8:118863200-118879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:118863400-118873000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:118863400-118874200	Weak transcription	HSMM	muscle
13	chr8:118863400-118874600	Weak transcription	HUVEC	blood vessel
14	chr8:118863400-118874800	Weak transcription	NH-A	brain
15	chr8:118863600-118872600	Weak transcription	NHLF	lung
16	chr8:118864000-118872400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:118864200-118872600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:118864200-118874800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:118864200-118878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:118864600-118873000	Weak transcription	Osteobl	bone
21	chr8:118866600-118872600	Weak transcription	Small Intestine	intestine
22	chr8:118866600-118874600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:118867000-118872600	Weak transcription	NHDF-Ad	bronchial
24	chr8:118869800-118872600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:118870000-118874400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:118870000-118876000	Weak transcription	Fetal Intestine Small	intestine
27	chr8:118870000-118876600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:118870200-118872600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:118870400-118871600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:118870600-118874200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:118871400-118871800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:118871400-118872800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:118871400-118872800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:118871600-118874800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:118871800-118874000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:118872400-118872800	Enhancers	Aorta	Aorta
37	chr8:118872400-118876000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:118872600-118873000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:118872600-118873200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:118872600-118873200	Enhancers	Fetal Muscle Leg	muscle
41	chr8:118872600-118873200	Enhancers	Small Intestine	intestine
42	chr8:118872600-118873200	Enhancers	NHDF-Ad	bronchial
43	chr8:118872600-118873200	Enhancers	NHLF	lung
44	chr8:118872600-118873600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:118872600-118873600	Enhancers	Fetal Stomach	stomach
46	chr8:118872600-118875600	Enhancers	HMEC	breast
47	chr8:118872600-118876000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:118872600-118876400	Enhancers	Colon Smooth Muscle	Colon
49	chr8:118872800-118873200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:118872800-118873600	Enhancers	NHEK	skin

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