Variant report

Variant	nsv971488
Chromosome Location	chr7:63925778-63934218
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	CEBPB	chr7:63931329-63931627	HepG2	liver:	n/a	chr7:63931445-63931456 chr7:63931431-63931442
2	GATA3	chr7:63926959-63927159	SH-SY5Y	brain:	n/a	n/a
3	IRF1	chr7:63933186-63933220	K562	blood:	n/a	n/a
4	KAP1	chr7:63925976-63926305	K562	blood:	n/a	n/a
5	POLR2A	chr7:63930530-63930728	K562	blood:	n/a	n/a
6	POLR2A	chr7:63932162-63932296	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr7:63928926-63928940	A549	lung:	n/a	n/a
8	STAT3	chr7:63926283-63926389	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF274	chr7:63929984-63930533	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF274	chr7:63929998-63930560	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63924927..63926790-chr7:63928441..63929985,2	K562	blood:
2	chr7:63924988..63927243-chr7:63941510..63943605,2	K562	blood:

Variant related genes	Relation type
ENSG00000228014	TF binding region
ENSG00000228014	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573378763	chr7:63925826-63925827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs578069884	chr7:63925875-63925876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543462630	chr7:63925913-63925914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563348384	chr7:63925924-63925925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10238197	chr7:63925934-63925935	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs555889834	chr7:63925966-63925967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549289913	chr7:63925975-63925976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559824680	chr7:63925976-63925977	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112040376	chr7:63925977-63925978	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112784532	chr7:63925978-63925979	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148771456	chr7:63925988-63925989	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571809454	chr7:63926037-63926038	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546950504	chr7:63926055-63926056	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539542405	chr7:63926141-63926142	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549867662	chr7:63926205-63926206	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569690711	chr7:63926207-63926208	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141557328	chr7:63926216-63926217	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547118917	chr7:63926243-63926244	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575598561	chr7:63926274-63926275	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544570616	chr7:63926276-63926277	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555326022	chr7:63926387-63926388	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182485528	chr7:63926423-63926424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564659505	chr7:63926491-63926492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572289267	chr7:63926509-63926510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150913696	chr7:63926542-63926543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186808842	chr7:63926560-63926561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533638735	chr7:63926581-63926582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191193510	chr7:63926699-63926700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371252220	chr7:63926728-63926729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375841137	chr7:63926739-63926740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543527876	chr7:63926741-63926742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139241567	chr7:63926744-63926745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540446589	chr7:63926779-63926780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573777193	chr7:63926799-63926800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185821738	chr7:63926800-63926801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190246259	chr7:63926803-63926804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528831370	chr7:63926820-63926821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193175205	chr7:63926858-63926859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185016895	chr7:63926883-63926884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565347409	chr7:63926923-63926924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531097817	chr7:63926956-63926957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551172892	chr7:63926961-63926962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569800743	chr7:63926978-63926979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189036991	chr7:63927059-63927060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs566763022	chr7:63927068-63927069	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370385114	chr7:63927075-63927076	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201787432	chr7:63927110-63927111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs144233715	chr7:63927113-63927114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs80221147	chr7:63927164-63927165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58922055	chr7:63927212-63927213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:75)

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
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63924800-63926400	Weak transcription	Ovary	ovary
2	chr7:63924800-63929200	Weak transcription	Aorta	Aorta
3	chr7:63925600-63927800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:63927800-63928400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:63928600-63929000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:63930000-63930200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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