Variant report

Variant	nsv971699
Chromosome Location	chr8:124824693-124829198
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124823606..124825496-chr8:124827931..124830037,3	MCF-7	breast:
2	chr8:124828216..124830191-chr8:124923748..124926066,2	MCF-7	breast:
3	chr8:124824345..124826636-chr8:124826682..124828481,2	MCF-7	breast:
4	chr8:124774301..124776211-chr8:124822631..124825115,2	MCF-7	breast:
5	chr8:124819199..124821817-chr8:124826193..124827950,2	K562	blood:
6	chr8:124823606..124825496-chr8:124827931..124830037,3	MCF-7	breast:
7	chr8:124819621..124821524-chr8:124823128..124825244,2	MCF-7	breast:
8	chr8:124824345..124826636-chr8:124826682..124828481,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FAM91A1	hsa-miR-155-5p	chr8:124825802-124825821

Variant related genes	Relation type
ENSG00000176853	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs555652568	chr8:124824725-124824726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545403434	chr8:124824731-124824732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200552156	chr8:124824749-124824750	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559570553	chr8:124824791-124824792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528803411	chr8:124824824-124824825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1946586	chr8:124824826-124824827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199753441	chr8:124824839-124824840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531015326	chr8:124824843-124824844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550771142	chr8:124824861-124824862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570942156	chr8:124824900-124824901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377646643	chr8:124824918-124824919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370838908	chr8:124824925-124824926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373825074	chr8:124824959-124824960	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377126780	chr8:124824963-124824964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370282230	chr8:124824965-124824966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374257877	chr8:124824995-124824996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539804433	chr8:124824996-124824997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117426894	chr8:124825035-124825036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565977708	chr8:124825064-124825065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111274906	chr8:124825106-124825107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534956869	chr8:124825123-124825124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs151026888	chr8:124825133-124825134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554728081	chr8:124825166-124825167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552931341	chr8:124825193-124825194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115939758	chr8:124825237-124825238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114196949	chr8:124825240-124825241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115076843	chr8:124825253-124825254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115824710	chr8:124825274-124825275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577894352	chr8:124825389-124825390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545543993	chr8:124825408-124825409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140175615	chr8:124825458-124825459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11542050	chr8:124825463-124825464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563743888	chr8:124825473-124825474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545389395	chr8:124825527-124825528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558961088	chr8:124825559-124825560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575724172	chr8:124825571-124825572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573182045	chr8:124825701-124825702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542614052	chr8:124825725-124825726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542190195	chr8:124825755-124825756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562429896	chr8:124825777-124825778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530979977	chr8:124825820-124825821	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
42	rs571587753	chr8:124825833-124825834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561627482	chr8:124825887-124825888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185355883	chr8:124825890-124825891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533512216	chr8:124825952-124825953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528831412	chr8:124825982-124825983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547007933	chr8:124826033-124826034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566899860	chr8:124826086-124826087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145600490	chr8:124826123-124826124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548149785	chr8:124826132-124826133	Weak transcription Strong transcription	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
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
Acute myeloid leukemia	20729466	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
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
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
3	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
12	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:124794200-124825000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr8:124797800-124826000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:124798400-124826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:124806800-124828400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:124808200-124825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:124808400-124831600	Weak transcription	Esophagus	oesophagus
23	chr8:124809800-124833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:124810200-124829600	Weak transcription	Pancreas	Pancrea
25	chr8:124810600-124831600	Weak transcription	Gastric	stomach
26	chr8:124811600-124830400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:124812800-124829800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:124813000-124830600	Weak transcription	Colonic Mucosa	Colon
29	chr8:124813200-124829000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:124813400-124837600	Weak transcription	Brain Substantia Nigra	brain
31	chr8:124814000-124826800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:124814200-124826600	Weak transcription	Fetal Brain Female	brain
33	chr8:124814800-124837400	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:124815400-124825200	Strong transcription	Placenta	Placenta
35	chr8:124816400-124825400	Strong transcription	HUVEC	blood vessel
36	chr8:124816600-124825200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:124816800-124825200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:124816800-124825600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:124816800-124825600	Strong transcription	HSMM	muscle
40	chr8:124816800-124826800	Strong transcription	Dnd41	blood
41	chr8:124816800-124828800	Strong transcription	Adipose Nuclei	Adipose
42	chr8:124817000-124825200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr8:124817000-124825200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:124817000-124825200	Strong transcription	Osteobl	bone
45	chr8:124817000-124828800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:124817000-124829000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:124817200-124825200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:124817200-124828600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:124817400-124825200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:124817400-124828600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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