Variant report

Variant	nsv437632
Chromosome Location	chr8:121861465-121877076
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:121864308..121866677-chr8:121872620..121875288,2	MCF-7	breast:
2	chr8:121853827..121856693-chr8:121857538..121861714,4	MCF-7	breast:
3	chr8:121865313..121867738-chr8:121870281..121872439,2	MCF-7	breast:
4	chr8:121865791..121868375-chr8:121870953..121873135,2	K562	blood:
5	chr8:121820905..121821755-chr8:121862259..121862768,2	MCF-7	breast:
6	chr8:121859072..121861169-chr8:121866791..121869126,2	MCF-7	breast:
7	chr8:121861612..121864034-chr8:121872422..121874822,2	MCF-7	breast:
8	chr8:121854976..121857000-chr8:121869044..121870751,2	MCF-7	breast:
9	chr8:121865791..121868375-chr8:121870953..121873135,2	K562	blood:
10	chr8:121864308..121866677-chr8:121872620..121875288,2	MCF-7	breast:
11	chr8:121865313..121867738-chr8:121870281..121872439,2	MCF-7	breast:
12	chr8:121861612..121864034-chr8:121872422..121874822,2	MCF-7	breast:

No data

Extended variants
information (count: 619 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10104069	chr8:121861465-121861466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368892400	chr8:121861499-121861500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562962198	chr8:121861530-121861531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539038483	chr8:121861559-121861560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143086472	chr8:121861560-121861561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575507868	chr8:121861598-121861599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539548329	chr8:121861697-121861698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75675010	chr8:121861710-121861711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148188936	chr8:121861749-121861750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566461238	chr8:121861774-121861775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543101178	chr8:121861874-121861875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186513516	chr8:121861897-121861898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561706187	chr8:121861944-121861945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574818892	chr8:121861977-121861978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73707189	chr8:121862014-121862015	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190900269	chr8:121862016-121862017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530970591	chr8:121862033-121862034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552259561	chr8:121862070-121862071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77431270	chr8:121862110-121862111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536308834	chr8:121862116-121862117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181884473	chr8:121862256-121862257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10086522	chr8:121862299-121862300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568422827	chr8:121862352-121862353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186067969	chr8:121862381-121862382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78897413	chr8:121862387-121862388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533571665	chr8:121862392-121862393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556142145	chr8:121862404-121862405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141558978	chr8:121862411-121862412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539614389	chr8:121862420-121862421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528280144	chr8:121862447-121862448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115284799	chr8:121862451-121862452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532662828	chr8:121862461-121862462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113313534	chr8:121862483-121862484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533861845	chr8:121862489-121862490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555113034	chr8:121862536-121862537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550986255	chr8:121862537-121862538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369733760	chr8:121862636-121862637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191014306	chr8:121862654-121862655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542124878	chr8:121862683-121862684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563595094	chr8:121862688-121862689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183168683	chr8:121862693-121862694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575455685	chr8:121862745-121862746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546048146	chr8:121862774-121862775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138161324	chr8:121862788-121862789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528607253	chr8:121862804-121862805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547068333	chr8:121862819-121862820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561983232	chr8:121862906-121862907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537164045	chr8:121862943-121862944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550915061	chr8:121863052-121863053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569139400	chr8:121863127-121863128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

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
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	20823134	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121838400-121869800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:121856800-121861600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:121858800-121866800	Enhancers	HepG2	liver
4	chr8:121860400-121863800	Weak transcription	Liver	Liver
5	chr8:121862000-121862200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:121862200-121863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:121863800-121864400	Enhancers	Fetal Kidney	kidney
8	chr8:121863800-121864600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:121863800-121864600	Enhancers	Liver	Liver
10	chr8:121863800-121864800	Enhancers	Fetal Intestine Large	intestine
11	chr8:121864400-121869400	Weak transcription	Fetal Kidney	kidney
12	chr8:121864600-121869400	Weak transcription	Liver	Liver
13	chr8:121864600-121870000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:121864800-121865200	Weak transcription	Fetal Intestine Large	intestine
15	chr8:121865200-121865400	Enhancers	Fetal Intestine Large	intestine
16	chr8:121865400-121869400	Weak transcription	Fetal Intestine Large	intestine
17	chr8:121866800-121868800	Weak transcription	HepG2	liver
18	chr8:121868000-121869200	Enhancers	NHDF-Ad	bronchial
19	chr8:121868200-121869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:121868200-121869400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121868200-121869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:121868200-121872600	Enhancers	NHLF	lung
23	chr8:121868400-121871400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:121868600-121869000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:121868600-121869200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:121868600-121869400	Enhancers	Osteobl	bone
27	chr8:121868800-121871000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:121868800-121877200	Enhancers	HepG2	liver
30	chr8:121869000-121869200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr8:121869000-121869200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr8:121869000-121869400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:121869000-121869600	Enhancers	Primary T cells from cord blood	blood
34	chr8:121869000-121869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:121869000-121869600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:121869000-121869600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:121869000-121869600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:121869000-121869600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:121869000-121869600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:121869000-121869800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:121869000-121870200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:121869000-121870400	Enhancers	Dnd41	blood
43	chr8:121869000-121870600	Enhancers	HSMMtube	muscle
44	chr8:121869000-121871600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:121869200-121869600	Flanking Active TSS	NHDF-Ad	bronchial
48	chr8:121869200-121869800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:121869200-121869800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:121869200-121869800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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