Variant report

Variant	nsv981545
Chromosome Location	chr7:87150781-87153458
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	MYC	chr7:87152814-87152886	MCF-7	breast:	n/a	n/a
2	MYC	chr7:87152490-87152526	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:87151583..87154349-chr7:87159070..87161471,3	K562	blood:
2	chr7:87152849..87157602-chr7:87158405..87161409,4	K562	blood:
3	chr7:87148081..87150146-chr7:87152019..87153582,2	MCF-7	breast:

Variant related genes	Relation type
ABCB1	TF binding region
ENSG00000085563	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527495670	chr7:87150810-87150811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116448635	chr7:87150818-87150819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548353762	chr7:87150840-87150841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144861955	chr7:87150846-87150847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190846593	chr7:87150857-87150858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370483465	chr7:87150886-87150887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550837686	chr7:87150909-87150910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566871876	chr7:87150936-87150937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17131983	chr7:87150937-87150938	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566691278	chr7:87150983-87150984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534214813	chr7:87151083-87151084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558784845	chr7:87151084-87151085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4148743	chr7:87151090-87151091	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544191533	chr7:87151091-87151092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555914703	chr7:87151123-87151124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574456293	chr7:87151155-87151156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541909522	chr7:87151171-87151172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571108171	chr7:87151193-87151194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148585055	chr7:87151217-87151218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527434312	chr7:87151231-87151232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552671982	chr7:87151236-87151237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546031887	chr7:87151238-87151239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201145392	chr7:87151252-87151253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142805412	chr7:87151383-87151384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545696183	chr7:87151406-87151407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556745250	chr7:87151414-87151415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183112042	chr7:87151429-87151430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569194545	chr7:87151466-87151467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530054945	chr7:87151483-87151484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548251214	chr7:87151506-87151507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371529657	chr7:87151507-87151508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1882477	chr7:87151524-87151525	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534115083	chr7:87151525-87151526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151027266	chr7:87151572-87151573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571100422	chr7:87151589-87151590	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2373589	chr7:87151658-87151659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556831832	chr7:87151661-87151662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574322599	chr7:87151663-87151664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113822506	chr7:87151684-87151685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs56036106	chr7:87151793-87151794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572212658	chr7:87151813-87151814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144748181	chr7:87151846-87151847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565303532	chr7:87151858-87151859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187995859	chr7:87151891-87151892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4148742	chr7:87152045-87152046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191870800	chr7:87152047-87152048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544580731	chr7:87152064-87152065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199705785	chr7:87152065-87152066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184300323	chr7:87152072-87152073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201647811	chr7:87152073-87152074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87132600-87151400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:87132800-87153400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:87133400-87164400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:87135400-87198000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:87138400-87173400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:87138800-87160600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:87138800-87185000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:87139400-87211000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:87139600-87197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:87141800-87172800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:87144600-87156600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:87144600-87215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:87144800-87157400	Weak transcription	HepG2	liver
14	chr7:87144800-87174000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:87144800-87186600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:87145800-87151600	Strong transcription	Primary hematopoietic stem cells	blood
17	chr7:87146200-87163200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:87146200-87228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:87146400-87173000	Weak transcription	Fetal Intestine Large	intestine
20	chr7:87147400-87155200	Weak transcription	Liver	Liver
21	chr7:87148800-87158600	Weak transcription	Placenta	Placenta
22	chr7:87149000-87151400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:87149600-87156200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:87150200-87155600	Weak transcription	Primary T cells from cord blood	blood
25	chr7:87151400-87152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:87151400-87156600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:87151600-87156600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:87152800-87185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:87153400-87155000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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