Variant report

Variant	esv3356290
Chromosome Location	chr7:125550804-125558380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:125553556-125553759	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr7:125558180-125558330	GM12866	blood:	n/a	n/a
3	CTCF	chr7:125551930-125551935	GM13977	blood:	n/a	n/a
4	FOXA2	chr7:125554683-125555035	A549	lung:	n/a	n/a
5	FOXA2	chr7:125554657-125555026	A549	lung:	n/a	n/a
6	MAFK	chr7:125556480-125556498	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr7:125556908-125556916	K562	blood:	n/a	n/a
8	NANOG	chr7:125555469-125555633	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:125555271-125555401	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:125555206-125555423	Hela-S3	cervix:	n/a	n/a
11	TEAD4	chr7:125557545-125557870	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr7:125555276-125555636	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr7:125555297-125555614	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-6	chr7:125557925-125558172	XLOC_006234

No data

Variant related genes	Relation type
ENSG00000197462	TF binding region

Extended variants
information (count: 417 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569532664	chr7:125550805-125550806	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572476191	chr7:125550830-125550831	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189943007	chr7:125550831-125550832	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11771095	chr7:125550852-125550853	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183303892	chr7:125550853-125550854	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150264324	chr7:125550871-125550872	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373452435	chr7:125550874-125550875	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188033865	chr7:125550882-125550883	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543090937	chr7:125550883-125550884	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375209649	chr7:125550919-125550920	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369378353	chr7:125550920-125550921	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374564343	chr7:125550921-125550922	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571204299	chr7:125550926-125550927	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575159731	chr7:125550928-125550929	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539370509	chr7:125550940-125550941	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557708372	chr7:125550948-125550949	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386717565	chr7:125550963-125550964	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9649020	chr7:125550969-125550970	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562085703	chr7:125550970-125550971	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553333918	chr7:125550972-125550973	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76913997	chr7:125550979-125550980	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113686814	chr7:125550980-125550981	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552516207	chr7:125550989-125550990	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574091140	chr7:125551006-125551007	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570735435	chr7:125551023-125551024	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544447296	chr7:125551024-125551025	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369510145	chr7:125551028-125551029	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80086118	chr7:125551033-125551034	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76348148	chr7:125551042-125551043	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62479944	chr7:125551044-125551045	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76698584	chr7:125551067-125551068	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137965322	chr7:125551078-125551079	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564062149	chr7:125551093-125551094	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386717566	chr7:125551094-125551095	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576061614	chr7:125551096-125551097	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185355385	chr7:125551107-125551108	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376292991	chr7:125551108-125551109	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550333465	chr7:125551113-125551114	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568739305	chr7:125551117-125551118	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112195217	chr7:125551152-125551153	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142431607	chr7:125551173-125551174	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572897661	chr7:125551175-125551176	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71631498	chr7:125551176-125551177	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61921888	chr7:125551181-125551182	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71631497	chr7:125551192-125551193	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9649489	chr7:125551219-125551220	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192582046	chr7:125551220-125551221	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544723832	chr7:125551240-125551241	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375069803	chr7:125551263-125551264	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369717455	chr7:125551276-125551277	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125545600-125557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125549400-125553400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:125550400-125551000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:125550600-125552000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:125550600-125553800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:125551000-125555800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:125552000-125553400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:125553400-125553600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:125553400-125554000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr7:125553600-125555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:125553800-125558000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:125554000-125555000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:125555000-125555200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:125555000-125556000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:125555200-125555600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:125555600-125556000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:125555600-125556000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr7:125555600-125556600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:125555600-125557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:125555600-125557000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:125555800-125557000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:125556000-125556400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:125556000-125556600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:125556000-125557200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:125556400-125557000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:125556600-125557000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
27	chr7:125557000-125557800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:125557000-125558000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:125557000-125558000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:125557000-125558000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:125557800-125558200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr7:125558000-125558200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr7:125558000-125558800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:125558000-125559600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:125558000-125560600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell

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