Variant report

Variant	nsv970514
Chromosome Location	chr7:65887884-65891263
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	CTCF	chr7:65888700-65888850	MCF-7	breast:	n/a	n/a
2	CTCF	chr7:65888816-65888977	MCF-7	breast:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
3	CTCF	chr7:65888780-65888930	HepG2	liver:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
4	CTCF	chr7:65888889-65888943	A549	lung:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
5	CTCF	chr7:65888886-65888970	MCF-7	breast:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
6	CTCF	chr7:65888820-65888970	HCPEpiC	choroid plexus:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
7	CTCF	chr7:65888820-65888970	MCF-7	breast:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
8	CTCF	chr7:65888728-65889051	K562	blood:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
9	CTCF	chr7:65888720-65888870	GM12868	blood:	n/a	n/a
10	CTCF	chr7:65888800-65888950	A549	lung:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
11	CTCF	chr7:65888861-65888948	HUVEC	blood vessel:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
12	CTCF	chr7:65888866-65888972	MCF-7	breast:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
13	CTCF	chr7:65888840-65888990	K562	blood:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
14	CTCF	chr7:65888853-65888990	MCF-7	breast:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
15	CTCF	chr7:65888862-65888953	MCF-7	breast:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
16	CTCF	chr7:65888806-65888983	K562	blood:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
17	CTCF	chr7:65888888-65888892	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr7:65888800-65888950	HPAF	blood vessel:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
19	CTCF	chr7:65888841-65888960	GM13976	blood:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
20	CTCF	chr7:65888820-65888970	Caco-2	colon:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
21	CTCF	chr7:65888858-65888972	H1-hESC	embryonic stem cell:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
22	CTCF	chr7:65888760-65888910	A549	lung:	n/a	n/a
23	CTCF	chr7:65888820-65888970	HEK293	kidney:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
24	CTCF	chr7:65888840-65888990	HPF	lung:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
25	CTCF	chr7:65888894-65888944	Hela-S3	cervix:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
26	CTCF	chr7:65888760-65888910	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr7:65888893-65888954	GM12891	blood:	n/a	chr7:65888901-65888919 chr7:65888904-65888917
28	CTCF	chr7:65888640-65888790	HMF	breast:	n/a	n/a
29	FOXA1	chr7:65890161-65890399	HepG2	liver:	n/a	n/a
30	FOXA1	chr7:65890094-65890384	HepG2	liver:	n/a	n/a
31	FOXA1	chr7:65890106-65890485	HepG2	liver:	n/a	n/a
32	FOXA1	chr7:65890106-65890302	T-47D	breast:	n/a	n/a
33	FOXA2	chr7:65890107-65890341	HepG2	liver:	n/a	n/a
34	FOXP2	chr7:65889729-65889966	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr7:65890357-65890525	HepG2	liver:	n/a	n/a
36	RAD21	chr7:65888784-65888967	HepG2	liver:	n/a	n/a
37	RAD21	chr7:65888768-65889054	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr7:65888792-65888962	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr7:65888716-65889091	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr7:65888820-65888967	K562	blood:	n/a	n/a
41	RAD21	chr7:65888822-65888986	K562	blood:	n/a	n/a
42	RAD21	chr7:65888776-65888975	HepG2	liver:	n/a	n/a
43	SMC3	chr7:65888810-65888938	K562	blood:	n/a	chr7:65888903-65888917
44	ZNF143	chr7:65888783-65888966	K562	blood:	n/a	n/a
45	ZNF384	chr7:65888764-65889089	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65885885..65889795-chr7:65890003..65893941,4	K562	blood:
2	chr7:65886870..65889729-chr7:65890003..65892844,2	K562	blood:

Variant related genes	Relation type
SKP1P1	TF binding region
ENSG00000231234	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57376336	chr7:65887925-65887926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7790626	chr7:65888092-65888093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181189367	chr7:65888130-65888131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529430681	chr7:65888147-65888148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58186454	chr7:65888170-65888171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76542417	chr7:65888171-65888172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398047695	chr7:65888183-65888184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571024232	chr7:65888284-65888285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6947339	chr7:65888470-65888471	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs528538861	chr7:65888478-65888479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551492418	chr7:65888491-65888492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553590813	chr7:65888499-65888500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539788479	chr7:65888505-65888506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62621443	chr7:65888510-65888511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183967221	chr7:65888514-65888515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535665774	chr7:65888543-65888544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139255832	chr7:65888550-65888551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572052487	chr7:65888562-65888563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6961990	chr7:65888570-65888571	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs189427289	chr7:65888603-65888604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577215461	chr7:65888621-65888622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543735145	chr7:65888662-65888663	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs563654321	chr7:65888706-65888707	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55976699	chr7:65888739-65888740	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573967332	chr7:65888742-65888743	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs542855167	chr7:65888756-65888757	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs116504372	chr7:65888759-65888760	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs180725770	chr7:65888762-65888763	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs143164812	chr7:65888791-65888792	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs187417542	chr7:65888792-65888793	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575269274	chr7:65888812-65888813	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs530915553	chr7:65888832-65888833	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs550962386	chr7:65888843-65888844	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191835001	chr7:65888860-65888861	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs143844010	chr7:65888908-65888909	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201565427	chr7:65888911-65888912	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548916463	chr7:65888919-65888920	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs148164849	chr7:65888920-65888921	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534466164	chr7:65888967-65888968	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs557813140	chr7:65888974-65888975	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs199834994	chr7:65888987-65888988	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559767770	chr7:65888988-65888989	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs75924435	chr7:65888989-65888990	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570975838	chr7:65888993-65888994	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs536669175	chr7:65889038-65889039	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556491128	chr7:65889048-65889049	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs574003566	chr7:65889054-65889055	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs77022064	chr7:65889056-65889057	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543295438	chr7:65889074-65889075	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs553336271	chr7:65889115-65889116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65876200-65888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:65877000-65888600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:65879000-65890000	Weak transcription	HSMM	muscle
4	chr7:65879000-65891800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:65879000-65893200	Weak transcription	Aorta	Aorta
6	chr7:65879000-65905600	Weak transcription	Lung	lung
7	chr7:65879000-65909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:65879000-65922200	Weak transcription	Small Intestine	intestine
9	chr7:65879200-65888600	Weak transcription	Adipose Nuclei	Adipose
10	chr7:65879200-65889600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:65879200-65891400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:65879200-65893000	Weak transcription	Gastric	stomach
13	chr7:65879200-65893800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:65879200-65894600	Weak transcription	HMEC	breast
15	chr7:65879200-65894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:65879200-65896000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:65879200-65902000	Weak transcription	Brain Substantia Nigra	brain
18	chr7:65879200-65904000	Weak transcription	Fetal Lung	lung
19	chr7:65879200-65907400	Weak transcription	Esophagus	oesophagus
20	chr7:65879200-65924600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:65879200-65939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:65879200-65946000	Weak transcription	NHEK	skin
23	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
24	chr7:65879400-65888200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:65879400-65889400	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:65879400-65889600	Weak transcription	Primary T cells from cord blood	blood
27	chr7:65879400-65889800	Weak transcription	Ovary	ovary
28	chr7:65879400-65890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:65879400-65891200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:65879400-65891400	Weak transcription	Colonic Mucosa	Colon
31	chr7:65879400-65892600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:65879400-65900600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:65879400-65901000	Weak transcription	Brain Angular Gyrus	brain
34	chr7:65879400-65901200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:65879400-65909200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:65879400-65914200	Weak transcription	Left Ventricle	heart
37	chr7:65879400-65914200	Weak transcription	GM12878-XiMat	blood
38	chr7:65879400-65917200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:65879400-65921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:65879400-65921400	Weak transcription	Fetal Kidney	kidney
41	chr7:65879600-65888600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:65879600-65888800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:65879600-65889600	Weak transcription	Fetal Intestine Large	intestine
44	chr7:65879600-65892200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:65879600-65893800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:65879600-65895000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:65879600-65899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:65879600-65900600	Weak transcription	Brain Germinal Matrix	brain
49	chr7:65879600-65907600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:65879600-65913600	Weak transcription	Primary B cells from peripheral blood	blood

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