Variant report

Variant	esv3345886
Chromosome Location	chr7:119204050-119225361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:119212161-119212254	A549	lung:	n/a	n/a
2	CTCF	chr7:119212250-119212368	GM12892	blood:	n/a	n/a
3	CTCF	chr7:119211960-119212110	HMEC	breast:	n/a	n/a
4	CTCF	chr7:119212249-119212315	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr7:119212144-119212432	K562	blood:	n/a	n/a
6	CTCF	chr7:119212239-119212387	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:119212260-119212410	HCT-116	colon:	n/a	n/a
8	CTCF	chr7:119212280-119212430	GM12871	blood:	n/a	n/a
9	CTCF	chr7:119210498-119210570	GM20000	blood:	n/a	n/a
10	CTCF	chr7:119212238-119212332	GM12878	blood:	n/a	n/a
11	CTCF	chr7:119212120-119212270	BE2_C	brain:	n/a	n/a
12	CTCF	chr7:119212298-119212367	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:119213180-119213330	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr7:119212320-119212470	RPTEC	kidney:	n/a	n/a
15	CTCF	chr7:119212200-119212350	HCM	heart:	n/a	n/a
16	CTCF	chr7:119212283-119212336	GM19238	blood:	n/a	n/a
17	CTCF	chr7:119213213-119213250	HepG2	liver:	n/a	n/a
18	CTCF	chr7:119212256-119212355	GM19239	blood:	n/a	n/a
19	CTCF	chr7:119212154-119212444	GM12878	blood:	n/a	n/a
20	CTCF	chr7:119212226-119212348	HepG2	liver:	n/a	n/a
21	CTCF	chr7:119212240-119212390	HVMF	connective:	n/a	n/a
22	CTCF	chr7:119212269-119212339	A549	lung:	n/a	n/a
23	CTCF	chr7:119212194-119212349	Medullo	brain:	n/a	n/a
24	CTCF	chr7:119212180-119212330	K562	blood:	n/a	n/a
25	CTCF	chr7:119212240-119212390	HepG2	liver:	n/a	n/a
26	CTCF	chr7:119212280-119212430	RPTEC	kidney:	n/a	n/a
27	CTCF	chr7:119212255-119212361	GM19240	blood:	n/a	n/a
28	CTCF	chr7:119212274-119212301	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr7:119212180-119212330	HMEC	breast:	n/a	n/a
30	CTCF	chr7:119212180-119212330	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr7:119212100-119212250	HVMF	connective:	n/a	n/a
32	CTCF	chr7:119212140-119212290	NB4	blood:	n/a	n/a
33	CTCF	chr7:119212270-119212286	K562	blood:	n/a	n/a
34	CTCF	chr7:119212219-119212248	LNCaP	prostate:	n/a	n/a
35	CTCF	chr7:119212175-119212430	Gliobla	brain:	n/a	n/a
36	CTCF	chr7:119212187-119212388	SK-N-SH_RA	brain:	n/a	n/a
37	E2F4	chr7:119223659-119223822	MCF10A-Er-Src	breast:	n/a	n/a
38	GATA3	chr7:119217783-119217960	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr7:119222967-119223124	SH-SY5Y	brain:	n/a	chr7:119222971-119222981
40	MAFK	chr7:119224729-119224759	K562	blood:	n/a	n/a
41	MAFK	chr7:119210725-119210747	HepG2	liver:	n/a	n/a
42	MAFK	chr7:119222985-119223141	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:119219009-119219183	K562	blood:	n/a	n/a
44	POLR2A	chr7:119224192-119225293	K562	blood:	n/a	n/a
45	POLR2A	chr7:119212219-119212415	K562	blood:	n/a	n/a
46	POLR2A	chr7:119204415-119204526	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:119205723-119205832	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:119221662-119221862	K562	blood:	n/a	n/a
49	POLR2A	chr7:119207025-119207563	K562	blood:	n/a	n/a
50	POLR2A	chr7:119213681-119213759	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119211056..119214261-chr7:119214480..119218185,4	K562	blood:
2	chr7:119215904..119218529-chr7:119221309..119224669,3	K562	blood:
3	chr7:119212184..119214604-chr7:119220970..119224685,3	K562	blood:
4	chr7:119212184..119216632-chr7:119220970..119225768,5	K562	blood:
5	chr7:119215904..119218529-chr7:119221309..119224669,3	K562	blood:
6	chr7:119212184..119216632-chr7:119220970..119225768,5	K562	blood:
7	chr7:119202572..119205180-chr8:103798970..103800546,2	MCF-7	breast:
8	chr7:119211056..119214261-chr7:119214480..119218185,4	K562	blood:
9	chr7:119212184..119214604-chr7:119220970..119224685,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256882	TF binding region

Extended variants
information (count: 308 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529053407	chr7:119204449-119204450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4129182	chr7:119204483-119204484	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533980585	chr7:119204503-119204504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs386717215	chr7:119205741-119205742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73719952	chr7:119205742-119205743	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112051040	chr7:119205811-119205812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182862742	chr7:119205823-119205824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535739053	chr7:119205831-119205832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563636889	chr7:119206607-119206608	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76785193	chr7:119206618-119206619	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144644641	chr7:119206652-119206653	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs189196934	chr7:119206702-119206703	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs79338637	chr7:119206710-119206711	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112491556	chr7:119206753-119206754	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528606894	chr7:119206768-119206769	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554263881	chr7:119206808-119206809	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs148641883	chr7:119206822-119206823	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs202064029	chr7:119206841-119206842	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs74592364	chr7:119206848-119206849	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs115245597	chr7:119206862-119206863	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs571690271	chr7:119206874-119206875	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs200795069	chr7:119206926-119206927	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs146830801	chr7:119206929-119206930	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs201324249	chr7:119206932-119206933	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs141761800	chr7:119206939-119206940	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs535261570	chr7:119206961-119206962	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs530956422	chr7:119207005-119207006	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs57693866	chr7:119207033-119207034	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558169578	chr7:119207045-119207046	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556904616	chr7:119207046-119207047	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs191251385	chr7:119207054-119207055	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs376748421	chr7:119207055-119207056	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs183799737	chr7:119207072-119207073	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs541316757	chr7:119207108-119207109	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs188371326	chr7:119207125-119207126	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs565393084	chr7:119207126-119207127	Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181240490	chr7:119207202-119207203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs150825648	chr7:119207210-119207211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs78714661	chr7:119207215-119207216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs543447636	chr7:119207218-119207219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112093572	chr7:119207286-119207287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116019414	chr7:119207303-119207304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs577699359	chr7:119207332-119207333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555600938	chr7:119207347-119207348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs543473380	chr7:119207363-119207364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76642276	chr7:119207392-119207393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs545496814	chr7:119207395-119207396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565412085	chr7:119207480-119207481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs116316470	chr7:119207504-119207505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112776304	chr7:119207508-119207509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119206600-119206800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
2	chr7:119206600-119207200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:119206800-119207000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
4	chr7:119207000-119207200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:119212000-119213000	Enhancers	Brain Substantia Nigra	brain
6	chr7:119212200-119212800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:119212600-119213000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:119213000-119218200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:119217400-119219000	Enhancers	Brain Hippocampus Middle	brain
10	chr7:119218200-119219000	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links