Variant report

Variant	esv3422196
Chromosome Location	chr4:45478420-45480968
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	HEY1	chr4:45478670-45478865	K562	blood:	n/a	n/a
2	NFYB	chr4:45478853-45479290	GM12878	blood:	n/a	n/a
3	NFYB	chr4:45478826-45479290	K562	blood:	n/a	n/a
4	POLR2A	chr4:45478665-45478776	K562	blood:	n/a	n/a
5	STAT3	chr4:45480556-45480714	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-931P	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549768147	chr4:45478680-45478681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199950321	chr4:45478685-45478686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192161827	chr4:45478686-45478687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541882864	chr4:45478692-45478693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546861025	chr4:45478715-45478716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570955472	chr4:45478720-45478721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535276675	chr4:45478738-45478739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs376011738	chr4:45478742-45478743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528040921	chr4:45478746-45478747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139474291	chr4:45478759-45478760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs141835942	chr4:45478769-45478770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201668587	chr4:45478770-45478771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs531659983	chr4:45478777-45478778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367789220	chr4:45478804-45478805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs371193164	chr4:45478808-45478809	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568327832	chr4:45478811-45478812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150627858	chr4:45478871-45478872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182526617	chr4:45478882-45478883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs10014682	chr4:45478904-45478905	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556670042	chr4:45478905-45478906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558420431	chr4:45478907-45478908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200594236	chr4:45478916-45478917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576990240	chr4:45478924-45478925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537510301	chr4:45478925-45478926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568577822	chr4:45478937-45478938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536469395	chr4:45478945-45478946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs556210100	chr4:45478951-45478952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs377199409	chr4:45478957-45478958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs1906084	chr4:45478978-45478979	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs13132236	chr4:45478980-45478981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560234274	chr4:45478982-45478983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187232139	chr4:45478991-45478992	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546477474	chr4:45479057-45479058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs564492411	chr4:45479066-45479067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs374432345	chr4:45479082-45479083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550140891	chr4:45479126-45479127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs561823618	chr4:45479167-45479168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529392605	chr4:45479168-45479169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371356719	chr4:45479173-45479174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547377156	chr4:45479174-45479175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs113831628	chr4:45479175-45479176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533809457	chr4:45479176-45479177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552461161	chr4:45479177-45479178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs192616669	chr4:45479192-45479193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538021536	chr4:45479198-45479199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556129392	chr4:45479206-45479207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs574572389	chr4:45479213-45479214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs184489221	chr4:45479219-45479220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553758508	chr4:45479259-45479260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs368585246	chr4:45479290-45479291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45479400-45479800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:45479400-45480000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:45480000-45480600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links