Variant report

Variant	nsv966832
Chromosome Location	chr7:65901934-65916028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:171)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:171 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:65904544-65905227	HepG2	liver:	n/a	n/a
2	ATF1	chr7:65904850-65904981	K562	blood:	n/a	n/a
3	BHLHE40	chr7:65903690-65903961	HepG2	liver:	n/a	n/a
4	CBX3	chr7:65904776-65905196	K562	blood:	n/a	n/a
5	CEBPB	chr7:65909027-65909199	IMR90	lung:	n/a	n/a
6	CEBPB	chr7:65904829-65905057	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:65904851-65905062	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:65904816-65905103	K562	blood:	n/a	n/a
9	CEBPB	chr7:65904801-65905155	A549	lung:	n/a	n/a
10	CEBPB	chr7:65904792-65905165	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:65904722-65905151	K562	blood:	n/a	n/a
12	CEBPB	chr7:65904797-65905170	HepG2	liver:	n/a	n/a
13	CEBPB	chr7:65904805-65905162	K562	blood:	n/a	n/a
14	CEBPB	chr7:65904804-65905147	Hela-S3	cervix:	n/a	n/a
15	CEBPD	chr7:65904830-65905157	K562	blood:	n/a	n/a
16	CREB1	chr7:65907284-65907713	HepG2	liver:	n/a	n/a
17	CREB1	chr7:65907414-65907804	HepG2	liver:	n/a	n/a
18	CTCF	chr7:65904850-65904983	K562	blood:	n/a	n/a
19	CTCF	chr7:65904791-65905040	IMR90	lung:	n/a	n/a
20	CTCF	chr7:65904820-65904970	AG04450	lung:	n/a	n/a
21	CTCF	chr7:65904840-65904990	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr7:65905160-65905310	BJ	skin:	n/a	n/a
23	CTCF	chr7:65905180-65905330	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr7:65904840-65904990	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr7:65905200-65905350	HVMF	connective:	n/a	n/a
26	CTCF	chr7:65904880-65905030	BJ	skin:	n/a	n/a
27	CTCF	chr7:65904611-65904687	GM13976	blood:	n/a	n/a
28	CTCF	chr7:65904820-65904970	HPF	lung:	n/a	n/a
29	CTCF	chr7:65904920-65905070	AG04450	lung:	n/a	n/a
30	CTCF	chr7:65904820-65904970	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr7:65904793-65904921	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr7:65912989-65913039	GM13976	blood:	n/a	n/a
33	CTCF	chr7:65904840-65904990	HEK293	kidney:	n/a	n/a
34	CTCF	chr7:65904720-65904870	BJ	skin:	n/a	n/a
35	CTCF	chr7:65904680-65904830	HCM	heart:	n/a	n/a
36	CTCF	chr7:65904840-65904990	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr7:65905160-65905310	HepG2	liver:	n/a	n/a
38	CTCF	chr7:65905180-65905330	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr7:65904860-65905010	HVMF	connective:	n/a	n/a
40	CTCF	chr7:65904820-65904970	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr7:65905140-65905290	HVMF	connective:	n/a	n/a
42	CTCF	chr7:65904840-65904990	HPF	lung:	n/a	n/a
43	CTCF	chr7:65904840-65904990	HepG2	liver:	n/a	n/a
44	CTCF	chr7:65905200-65905350	HEK293	kidney:	n/a	n/a
45	CTCF	chr7:65903342-65903374	GM13976	blood:	n/a	n/a
46	CTCF	chr7:65904820-65904970	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr7:65905160-65905310	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr7:65905180-65905330	HPF	lung:	n/a	n/a
49	CTCF	chr7:65904720-65904870	HVMF	connective:	n/a	n/a
50	CUX1	chr7:65904837-65904999	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65579328..65582100-chr7:65915520..65918046,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-11	chr7:65908393-65909616	NONHSAT121180
2	lnc-TPST1-3	chr7:65908967-65910376	NONHSAT121181

No data

Variant related genes	Relation type
ENSG00000236928	TF binding region
ENSG00000241258	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573289672	chr7:65901984-65901985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545392344	chr7:65902001-65902002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183540351	chr7:65902044-65902045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187091779	chr7:65902046-65902047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190022152	chr7:65902080-65902081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140728304	chr7:65902082-65902083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371578504	chr7:65902189-65902190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145867015	chr7:65902210-65902211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565405566	chr7:65902211-65902212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534340558	chr7:65902216-65902217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182311431	chr7:65902315-65902316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148089830	chr7:65902324-65902325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62465389	chr7:65902432-65902433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557726039	chr7:65902463-65902464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537339479	chr7:65902472-65902473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557556357	chr7:65902503-65902504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186621460	chr7:65902533-65902534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192686716	chr7:65902558-65902559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536807128	chr7:65902564-65902565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553526189	chr7:65902613-65902614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150232185	chr7:65902616-65902617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185562738	chr7:65902673-65902674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9690879	chr7:65902690-65902691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188887483	chr7:65902706-65902707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571824895	chr7:65902713-65902714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535694605	chr7:65902722-65902723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs118179092	chr7:65902728-65902729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370537969	chr7:65902747-65902748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529071806	chr7:65902761-65902762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73699791	chr7:65902774-65902775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559028248	chr7:65902793-65902794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141969269	chr7:65902830-65902831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4717295	chr7:65902883-65902884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149519311	chr7:65902885-65902886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573333835	chr7:65902940-65902941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551401164	chr7:65902956-65902957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535918580	chr7:65903047-65903048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115885854	chr7:65903069-65903070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76889238	chr7:65903096-65903097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555882994	chr7:65903177-65903178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551004171	chr7:65903179-65903180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567930721	chr7:65903206-65903207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536842019	chr7:65903270-65903271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185159811	chr7:65903274-65903275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62465390	chr7:65903313-65903314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377754965	chr7:65903360-65903361	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs538755704	chr7:65903374-65903375	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558939551	chr7:65903393-65903394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs138799433	chr7:65903451-65903452	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544560618	chr7:65903497-65903498	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879000-65905600	Weak transcription	Lung	lung
2	chr7:65879000-65909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:65879000-65922200	Weak transcription	Small Intestine	intestine
4	chr7:65879200-65902000	Weak transcription	Brain Substantia Nigra	brain
5	chr7:65879200-65904000	Weak transcription	Fetal Lung	lung
6	chr7:65879200-65907400	Weak transcription	Esophagus	oesophagus
7	chr7:65879200-65924600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:65879200-65939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:65879200-65946000	Weak transcription	NHEK	skin
10	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
11	chr7:65879400-65909200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:65879400-65914200	Weak transcription	Left Ventricle	heart
13	chr7:65879400-65914200	Weak transcription	GM12878-XiMat	blood
14	chr7:65879400-65917200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:65879400-65921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:65879400-65921400	Weak transcription	Fetal Kidney	kidney
17	chr7:65879600-65907600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:65879600-65913600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:65879600-65919000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:65879600-65920400	Weak transcription	Primary B cells from cord blood	blood
21	chr7:65879800-65913600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:65884000-65919600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:65885000-65904200	Weak transcription	K562	blood
24	chr7:65886000-65913600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:65886600-65920400	Weak transcription	Right Ventricle	heart
26	chr7:65887000-65924600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:65887000-65924600	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:65887200-65904600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:65889200-65903000	Weak transcription	Thymus	Thymus
30	chr7:65889200-65939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:65889600-65913800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:65890000-65928800	Weak transcription	Adipose Nuclei	Adipose
33	chr7:65890200-65907400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:65890400-65916200	Weak transcription	Fetal Thymus	thymus
35	chr7:65891400-65902000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:65891600-65939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:65892000-65931800	Weak transcription	Ovary	ovary
38	chr7:65893200-65913400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:65894200-65905400	Weak transcription	Gastric	stomach
40	chr7:65894200-65939200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:65894600-65905200	Weak transcription	Pancreas	Pancrea
42	chr7:65894800-65914000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:65895200-65902600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:65895200-65904000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:65895200-65904200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:65895200-65904200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:65895200-65913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:65895400-65902600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:65895400-65904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:65895400-65907400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links