Variant report

Variant	nsv1028387
Chromosome Location	chr8:118602105-118640162
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:118619974..118622515-chr8:118630290..118632485,2	MCF-7	breast:
2	chr8:118598127..118600563-chr8:118602210..118604049,3	K562	blood:
3	chr8:118627506..118628166-chr8:119431178..119431899,3	MCF-7	breast:
4	chr8:118531991..118534985-chr8:118618605..118620948,2	K562	blood:
5	chr8:118600535..118603106-chr8:118609854..118612779,2	MCF-7	breast:
6	chr8:118486547..118487132-chr8:118605065..118605925,2	MCF-7	breast:
7	chr16:1588593..1590276-chr8:118608646..118611182,2	MCF-7	breast:
8	chr8:118619974..118622515-chr8:118630290..118632485,2	MCF-7	breast:
9	chr8:118600535..118603106-chr8:118609854..118612779,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164758	chromatin interactions

Extended variants
information (count: 1435 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:1435 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs899685	chr8:118602105-118602106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557450268	chr8:118602110-118602111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538973024	chr8:118602114-118602115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564203667	chr8:118602132-118602133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533306544	chr8:118602133-118602134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368832325	chr8:118602135-118602136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16889924	chr8:118602142-118602143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554722040	chr8:118602156-118602157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117280477	chr8:118602157-118602158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536709031	chr8:118602180-118602181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575298159	chr8:118602284-118602285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558172695	chr8:118602285-118602286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368897964	chr8:118602336-118602337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541737087	chr8:118602408-118602409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10505317	chr8:118602425-118602426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186865031	chr8:118602466-118602467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142229264	chr8:118602478-118602479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535871782	chr8:118602517-118602518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563822606	chr8:118602545-118602546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147046386	chr8:118602572-118602573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542813951	chr8:118602580-118602581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552703241	chr8:118602692-118602693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564502969	chr8:118602712-118602713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192158477	chr8:118602746-118602747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546940807	chr8:118602822-118602823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565858306	chr8:118602847-118602848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529953119	chr8:118602880-118602881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371727200	chr8:118602906-118602907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147666115	chr8:118602914-118602915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183406480	chr8:118602916-118602917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs899686	chr8:118602926-118602927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558207610	chr8:118602939-118602940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs732095	chr8:118602983-118602984	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374114298	chr8:118603017-118603018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534337614	chr8:118603052-118603053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552902150	chr8:118603061-118603062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113984992	chr8:118603077-118603078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575032640	chr8:118603082-118603083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542466035	chr8:118603085-118603086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142460417	chr8:118603223-118603224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73704114	chr8:118603250-118603251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546355970	chr8:118603271-118603272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564590447	chr8:118603362-118603363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150215937	chr8:118603365-118603366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs737298	chr8:118603376-118603377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138772560	chr8:118603380-118603381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186620835	chr8:118603404-118603405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189836568	chr8:118603541-118603542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569541355	chr8:118603542-118603543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182453416	chr8:118603549-118603550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118591600-118615000	Weak transcription	Aorta	Aorta
2	chr8:118601400-118602200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:118601400-118602200	Enhancers	Osteobl	bone
4	chr8:118601400-118602400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:118601400-118603600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:118601600-118602200	Enhancers	HSMM	muscle
7	chr8:118601800-118602200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:118602000-118604200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:118602000-118604400	Weak transcription	HSMMtube	muscle
10	chr8:118602000-118604600	Weak transcription	NH-A	brain
11	chr8:118602200-118604000	Weak transcription	HSMM	muscle
12	chr8:118602200-118604200	Weak transcription	Osteobl	bone
13	chr8:118602200-118604400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:118602200-118605000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:118602400-118605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:118603800-118606200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:118604000-118606200	Enhancers	NHDF-Ad	bronchial
18	chr8:118604000-118606400	Enhancers	HSMM	muscle
19	chr8:118604200-118605400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:118604200-118606200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:118604200-118606200	Enhancers	Osteobl	bone
22	chr8:118604400-118605400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:118604400-118605400	Enhancers	Fetal Muscle Leg	muscle
24	chr8:118604400-118605800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:118604400-118605800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:118604400-118606000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:118604400-118606000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:118604400-118606200	Enhancers	HSMMtube	muscle
29	chr8:118604600-118605000	Enhancers	Ovary	ovary
30	chr8:118604600-118605000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:118604600-118605400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:118604600-118605400	Enhancers	Fetal Muscle Trunk	muscle
33	chr8:118604600-118605800	Enhancers	NHLF	lung
34	chr8:118604600-118606200	Enhancers	Brain Hippocampus Middle	brain
35	chr8:118604600-118606800	Enhancers	NH-A	brain
36	chr8:118604800-118605000	Enhancers	Fetal Lung	lung
37	chr8:118604800-118606000	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:118604800-118606200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:118605000-118605400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:118605000-118605400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:118605200-118605400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:118605200-118606000	Enhancers	Brain Substantia Nigra	brain
43	chr8:118605200-118606200	Enhancers	Brain Anterior Caudate	brain
44	chr8:118605400-118606200	Enhancers	Liver	Liver
45	chr8:118605600-118605800	Enhancers	Fetal Lung	lung
46	chr8:118605600-118606000	Enhancers	Brain Angular Gyrus	brain
47	chr8:118610800-118614600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:118611000-118614200	Weak transcription	HSMM	muscle
49	chr8:118613000-118616200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:118613400-118615800	Enhancers	NHDF-Ad	bronchial

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