Variant report

Variant	nsv970869
Chromosome Location	chr7:66111792-66114758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:66113015-66113052	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:66111835-66112012	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:66114679-66114890	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:66114681-66115258	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:66114139-66115436	K562	blood:	n/a	n/a
6	POLR2A	chr7:66111789-66111914	K562	blood:	n/a	n/a
7	POLR2A	chr7:66112737-66113214	K562	blood:	n/a	n/a
8	POLR2A	chr7:66111805-66111958	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:66113219-66113597	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr7:66114688-66114823	K562	blood:	n/a	n/a
11	POLR2A	chr7:66114494-66114596	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:66114561-66114901	A549	lung:	n/a	n/a
13	POLR2A	chr7:66113527-66113532	K562	blood:	n/a	n/a
14	POLR2A	chr7:66112425-66112459	K562	blood:	n/a	n/a
15	POLR2A	chr7:66113602-66113755	K562	blood:	n/a	n/a
16	POLR2A	chr7:66114447-66114666	K562	blood:	n/a	n/a
17	POLR2A	chr7:66112670-66112671	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:66113279-66113495	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:66114284-66115126	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr7:66114471-66114489	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:66057089..66058906-chr7:66114378..66117373,2	MCF-7	breast:
2	chr7:66107277..66110029-chr7:66113989..66116084,2	MCF-7	breast:
3	chr7:66102739..66106974-chr7:66106983..66113666,6	K562	blood:
4	chr7:66104853..66106959-chr7:66112169..66114610,2	MCF-7	breast:
5	chr7:66108448..66114561-chr7:66117849..66121082,8	MCF-7	breast:
6	chr7:66110828..66113551-chr7:66145936..66148699,2	K562	blood:
7	chr7:66112224..66114650-chr7:66117842..66120552,3	K562	blood:
8	chr7:66106453..66108047-chr7:66113276..66115023,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226824	TF binding region
ENSG00000226824	chromatin interactions
ENSG00000232559	chromatin interactions
ENSG00000154710	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375007621	chr7:66111800-66111801	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs180843160	chr7:66111814-66111815	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139202932	chr7:66111820-66111821	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6460311	chr7:66111873-66111874	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs556567716	chr7:66111914-66111915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185724883	chr7:66111928-66111929	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538960398	chr7:66112012-66112013	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559829988	chr7:66112121-66112122	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370593602	chr7:66112149-66112150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554960783	chr7:66112157-66112158	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs117498244	chr7:66112195-66112196	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs1968125	chr7:66112207-66112208	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2019013	chr7:66112208-66112209	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs190632769	chr7:66112218-66112219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71846701	chr7:66112231-66112232	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181778744	chr7:66112267-66112268	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577240178	chr7:66112296-66112297	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577752577	chr7:66112339-66112340	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186149205	chr7:66112355-66112356	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563391085	chr7:66112370-66112371	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs144143165	chr7:66112373-66112374	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529225233	chr7:66112432-66112433	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544315510	chr7:66112479-66112480	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562048616	chr7:66112532-66112533	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527713417	chr7:66112623-66112624	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547568805	chr7:66112626-66112627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146438188	chr7:66112649-66112650	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550349752	chr7:66112666-66112667	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569982655	chr7:66112703-66112704	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs17229674	chr7:66112732-66112733	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs372991143	chr7:66112740-66112741	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190518021	chr7:66112741-66112742	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs3950232	chr7:66112777-66112778	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530125539	chr7:66112778-66112779	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369646594	chr7:66112811-66112812	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186435483	chr7:66112944-66112945	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542766845	chr7:66112992-66112993	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190941873	chr7:66112993-66112994	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182837938	chr7:66112996-66112997	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577672180	chr7:66113007-66113008	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543225177	chr7:66113096-66113097	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557208094	chr7:66113113-66113114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573915099	chr7:66113168-66113169	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542921192	chr7:66113192-66113193	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs559730591	chr7:66113202-66113203	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527673502	chr7:66113226-66113227	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs574521345	chr7:66113236-66113237	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541421534	chr7:66113264-66113265	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs564376756	chr7:66113275-66113276	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562559104	chr7:66113279-66113280	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66095000-66115200	Weak transcription	HMEC	breast
2	chr7:66095200-66118400	Weak transcription	Fetal Heart	heart
3	chr7:66095200-66118400	Weak transcription	HUVEC	blood vessel
4	chr7:66096000-66113800	Strong transcription	Fetal Stomach	stomach
5	chr7:66097000-66113400	Strong transcription	Fetal Brain Female	brain
6	chr7:66097800-66118200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:66098000-66112800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr7:66098000-66113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:66098000-66113400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:66098200-66112400	Strong transcription	Fetal Muscle Leg	muscle
11	chr7:66098400-66112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:66098400-66113200	Strong transcription	Spleen	Spleen
13	chr7:66099800-66113400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:66101400-66113400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:66101800-66113400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:66102200-66112400	Strong transcription	Lung	lung
17	chr7:66102200-66113600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:66102200-66113800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:66102400-66112400	Strong transcription	Placenta	Placenta
20	chr7:66102400-66113400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:66102400-66113400	Strong transcription	Brain Germinal Matrix	brain
22	chr7:66102600-66112400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:66102600-66112400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:66102800-66113200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:66102800-66113600	Strong transcription	Thymus	Thymus
26	chr7:66103000-66112600	Strong transcription	Osteobl	bone
27	chr7:66103200-66112400	Strong transcription	Aorta	Aorta
28	chr7:66104000-66117600	Weak transcription	Hela-S3	cervix
29	chr7:66104200-66115000	Weak transcription	NHEK	skin
30	chr7:66104600-66118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:66104800-66118200	Weak transcription	Pancreas	Pancrea
32	chr7:66104800-66118400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:66105000-66118600	Weak transcription	Esophagus	oesophagus
34	chr7:66105000-66119000	Weak transcription	Gastric	stomach
35	chr7:66105200-66118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:66105600-66118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:66105800-66113400	Strong transcription	HSMM	muscle
38	chr7:66105800-66118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:66105800-66118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:66106000-66118200	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:66106000-66118400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:66106200-66112400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:66106600-66118400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:66106800-66114000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:66106800-66118200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:66106800-66118600	Weak transcription	Fetal Kidney	kidney
47	chr7:66107000-66112400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:66107000-66112600	Strong transcription	Fetal Intestine Small	intestine
49	chr7:66107000-66118400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:66107200-66118200	Weak transcription	H9 Cell Line	embryonic stem cell

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