Variant report

Variant	nsv982116
Chromosome Location	chr8:121475460-121479959
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:121474578..121477063-chr8:121479242..121481717,3	K562	blood:
2	chr8:121456234..121458471-chr8:121474403..121476928,2	K562	blood:
3	chr8:121474578..121477063-chr8:121479242..121481717,3	K562	blood:
4	chr8:121469813..121472120-chr8:121473319..121475647,2	K562	blood:
5	chr8:121471060..121472875-chr8:121476214..121479211,2	K562	blood:
6	chr8:121456680..121458878-chr8:121471899..121475755,3	MCF-7	breast:
7	chr8:121467254..121469319-chr8:121475041..121477218,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172167	chromatin interactions
ENSG00000172172	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528465801	chr8:121475483-121475484	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527575832	chr8:121475487-121475488	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs4870731	chr8:121475490-121475491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568224309	chr8:121475511-121475512	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs77269571	chr8:121475611-121475612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373144760	chr8:121475664-121475665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186080884	chr8:121475689-121475690	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113809325	chr8:121475696-121475697	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537806574	chr8:121475713-121475714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189766525	chr8:121475738-121475739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371444305	chr8:121475772-121475773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555370319	chr8:121475783-121475784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs139019285	chr8:121475792-121475793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572976056	chr8:121475858-121475859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533726161	chr8:121475931-121475932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377612642	chr8:121475997-121475998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371242754	chr8:121476011-121476012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575004122	chr8:121476023-121476024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142965275	chr8:121476027-121476028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563860647	chr8:121476074-121476075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575424809	chr8:121476097-121476098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535581506	chr8:121476125-121476126	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71514706	chr8:121476195-121476196	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111290427	chr8:121476201-121476202	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs150831266	chr8:121476243-121476244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373892579	chr8:121476262-121476263	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546646577	chr8:121476296-121476297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116112438	chr8:121476341-121476342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116230019	chr8:121476399-121476400	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs138302402	chr8:121476418-121476419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115437869	chr8:121476421-121476422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573448337	chr8:121476430-121476431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577686039	chr8:121476519-121476520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185941093	chr8:121476533-121476534	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs572637862	chr8:121476543-121476544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs35652239	chr8:121476610-121476611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551607749	chr8:121476619-121476620	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566536345	chr8:121476637-121476638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533895392	chr8:121476656-121476657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200152416	chr8:121476738-121476739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190353964	chr8:121476805-121476806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs573564375	chr8:121476807-121476808	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs34718530	chr8:121476920-121476921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537483473	chr8:121476923-121476924	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs557631752	chr8:121477017-121477018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111986686	chr8:121477026-121477027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183269332	chr8:121477032-121477033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs386729295	chr8:121477058-121477059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77865992	chr8:121477060-121477061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374029474	chr8:121477072-121477073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
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	17603634	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:121458000-121480800	Weak transcription	Lung	lung
3	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
4	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:121458200-121479600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:121458200-121480600	Weak transcription	Left Ventricle	heart
7	chr8:121458200-121483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
9	chr8:121458400-121480600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:121458400-121481800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:121458400-121482600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:121458400-121482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:121458400-121484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:121458400-121484600	Weak transcription	Small Intestine	intestine
15	chr8:121458400-121485400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:121458400-121501000	Weak transcription	Ovary	ovary
19	chr8:121458600-121480000	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:121458600-121480800	Weak transcription	Fetal Intestine Large	intestine
21	chr8:121458600-121482800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:121458600-121483400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:121458600-121484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:121458600-121484000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:121458600-121484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:121458600-121484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:121458600-121484400	Weak transcription	Brain Substantia Nigra	brain
28	chr8:121458600-121486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
30	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:121458800-121479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:121458800-121480000	Weak transcription	Primary B cells from cord blood	blood
34	chr8:121458800-121483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:121458800-121484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:121458800-121484800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:121458800-121489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:121458800-121491000	Weak transcription	HMEC	breast
39	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
40	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
41	chr8:121458800-121510400	Weak transcription	NHLF	lung
42	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:121459000-121485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:121459000-121485600	Weak transcription	K562	blood
45	chr8:121459000-121486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:121459600-121482800	Weak transcription	A549	lung
48	chr8:121459600-121484800	Weak transcription	GM12878-XiMat	blood
49	chr8:121461000-121491000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:121462400-121475600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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