Variant report

Variant	nsv825528
Chromosome Location	chr10:97599497-97600733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr10:97599965-97600287	K562	blood:	n/a	chr10:97600083-97600101
2	MAFF	chr10:97599982-97600228	HepG2	liver:	n/a	chr10:97600083-97600101
3	MAFK	chr10:97599934-97600267	IMR90	lung:	n/a	chr10:97600084-97600099
4	MAFK	chr10:97599908-97600252	HepG2	liver:	n/a	chr10:97600084-97600099
5	MAFK	chr10:97599983-97600191	K562	blood:	n/a	chr10:97600084-97600099
6	MAFK	chr10:97599936-97600224	HepG2	liver:	n/a	chr10:97600084-97600099
7	POLR2A	chr10:97598894-97600176	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:97599922-97600821	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:97596339-97599695	GM12891	blood:	n/a	n/a
10	POLR2A	chr10:97599305-97599971	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:97598921-97599637	GM12891	blood:	n/a	n/a
12	POLR2A	chr10:97599127-97599775	GM12878	blood:	n/a	n/a
13	RCOR1	chr10:97599983-97600216	K562	blood:	n/a	n/a
14	WRNIP1	chr10:97600590-97600775	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENTPD1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538046581	chr10:97599531-97599532	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199915134	chr10:97599532-97599533	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61731067	chr10:97599537-97599538	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146324431	chr10:97599562-97599563	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371120547	chr10:97599574-97599575	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191135166	chr10:97599639-97599640	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539611356	chr10:97599701-97599702	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554342627	chr10:97599720-97599721	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567645592	chr10:97599740-97599741	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs536699737	chr10:97599778-97599779	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556178345	chr10:97599803-97599804	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs576249043	chr10:97599853-97599854	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544974950	chr10:97599942-97599943	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558299833	chr10:97599975-97599976	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs1342791	chr10:97599997-97599998	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs540708776	chr10:97600193-97600194	Enhancers Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs183959633	chr10:97600269-97600270	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529636803	chr10:97600318-97600319	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs571300376	chr10:97600370-97600371	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543445448	chr10:97600382-97600383	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576117241	chr10:97600399-97600400	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142652300	chr10:97600405-97600406	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532003805	chr10:97600424-97600425	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116476488	chr10:97600445-97600446	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1342790	chr10:97600539-97600540	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs527918480	chr10:97600562-97600563	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370928608	chr10:97600581-97600582	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572467492	chr10:97600618-97600619	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567802927	chr10:97600630-97600631	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs141101299	chr10:97600674-97600675	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs188912010	chr10:97600675-97600676	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536365659	chr10:97600677-97600678	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs556472108	chr10:97600678-97600679	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190808266	chr10:97600700-97600701	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564341730	chr10:97600701-97600702	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573915251	chr10:97600702-97600703	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
2	chr10:97581000-97600600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:97581200-97602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:97586200-97600000	Weak transcription	Fetal Intestine Small	intestine
5	chr10:97591600-97601000	Weak transcription	Spleen	Spleen
6	chr10:97592000-97602200	Enhancers	Primary B cells from cord blood	blood
7	chr10:97592000-97607200	Weak transcription	Left Ventricle	heart
8	chr10:97592600-97632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:97592800-97600400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:97593000-97601400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:97594200-97601200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:97594200-97601400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:97594200-97602200	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:97594400-97600400	Weak transcription	Fetal Intestine Large	intestine
15	chr10:97597200-97601200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:97597200-97601600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:97597200-97627200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:97597400-97599600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:97597400-97600600	Weak transcription	Small Intestine	intestine
20	chr10:97597400-97601200	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:97597400-97601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:97597400-97601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:97597400-97601400	Weak transcription	Brain Substantia Nigra	brain
24	chr10:97597400-97602600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:97597400-97604600	Weak transcription	Lung	lung
26	chr10:97597400-97624600	Weak transcription	Placenta	Placenta
27	chr10:97597400-97627400	Weak transcription	Brain Angular Gyrus	brain
28	chr10:97597600-97600800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:97597600-97601200	Weak transcription	Brain Anterior Caudate	brain
30	chr10:97597600-97601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:97597600-97609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:97597600-97620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:97597800-97600000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:97597800-97601400	Weak transcription	Fetal Stomach	stomach
35	chr10:97597800-97601400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:97598000-97600200	Weak transcription	HepG2	liver
37	chr10:97598000-97600400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:97598200-97601400	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:97598200-97602600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:97598400-97601400	Genic enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:97598600-97601200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr10:97598800-97600000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr10:97599000-97600200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr10:97599000-97601000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:97599000-97601200	Genic enhancers	GM12878-XiMat	blood
46	chr10:97599400-97600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:97599400-97601000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:97599600-97599800	Enhancers	Rectal Smooth Muscle	rectum
49	chr10:97599600-97601200	Weak transcription	Fetal Kidney	kidney
50	chr10:97599800-97600200	Weak transcription	Rectal Smooth Muscle	rectum

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