Variant report

Variant	nsv970418
Chromosome Location	chr7:99413271-99420442
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	ARID3A	chr7:99419549-99419766	K562	blood:	n/a	n/a
2	CCNT2	chr7:99419544-99419637	K562	blood:	n/a	n/a
3	CEBPB	chr7:99418281-99418590	HepG2	liver:	n/a	chr7:99418432-99418443
4	CEBPB	chr7:99418273-99418593	K562	blood:	n/a	chr7:99418432-99418443
5	CEBPB	chr7:99418359-99418479	A549	lung:	n/a	chr7:99418432-99418443
6	CEBPB	chr7:99418365-99418472	Hela-S3	cervix:	n/a	chr7:99418432-99418443
7	CEBPB	chr7:99418325-99418600	K562	blood:	n/a	chr7:99418432-99418443
8	CEBPB	chr7:99418345-99418496	K562	blood:	n/a	chr7:99418432-99418443
9	CEBPB	chr7:99416019-99416092	K562	blood:	n/a	chr7:99416047-99416058 chr7:99416047-99416060 chr7:99416047-99416060 chr7:99416047-99416060 chr7:99416047-99416058
10	CTCF	chr7:99417600-99417750	GM12869	blood:	n/a	n/a
11	EP300	chr7:99419650-99419697	K562	blood:	n/a	n/a
12	IRF1	chr7:99419610-99419776	K562	blood:	n/a	n/a
13	JUND	chr7:99418425-99418461	K562	blood:	n/a	n/a
14	MAFF	chr7:99417729-99417775	K562	blood:	n/a	n/a
15	RCOR1	chr7:99419640-99419699	K562	blood:	n/a	n/a
16	STAT3	chr7:99417723-99417791	MCF10A-Er-Src	breast:	n/a	n/a
17	TAL1	chr7:99419630-99419803	K562	blood:	n/a	n/a
18	UBTF	chr7:99419319-99419432	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99412647..99414834-chr7:99418684..99423843,4	K562	blood:
2	chr7:99415648..99420194-chr7:99515880..99518686,4	MCF-7	breast:
3	chr7:99414195..99416964-chr7:99417177..99419038,2	MCF-7	breast:
4	chr7:99389428..99391803-chr7:99419733..99421498,2	MCF-7	breast:
5	chr7:99418450..99421323-chr7:99421994..99426269,3	K562	blood:
6	chr7:99217535..99219333-chr7:99417446..99419082,2	K562	blood:
7	chr7:99224377..99226344-chr7:99414554..99417105,2	K562	blood:
8	chr7:99412647..99414218-chr7:99422343..99425321,2	K562	blood:
9	chr7:99415454..99416963-chr7:99419228..99420818,2	K562	blood:
10	chr7:99415454..99416963-chr7:99419228..99420818,2	K562	blood:
11	chr7:99389616..99391219-chr7:99413108..99414812,2	K562	blood:
12	chr7:99412647..99414834-chr7:99418684..99423843,4	K562	blood:
13	chr7:99418069..99420911-chr7:99424832..99427207,2	MCF-7	breast:
14	chr1:115645039..115645569-chr7:99419573..99420093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261511	TF binding region
ENSG00000261511	chromatin interactions
ENSG00000197037	chromatin interactions
ENSG00000021461	chromatin interactions
ENSG00000146833	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573707518	chr7:99414225-99414226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117880007	chr7:99414267-99414268	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180700678	chr7:99414276-99414277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533070164	chr7:99414289-99414290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377161573	chr7:99414301-99414302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145726067	chr7:99414337-99414338	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113763321	chr7:99414349-99414350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371657152	chr7:99414363-99414364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112048536	chr7:99414399-99414400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370640274	chr7:99414424-99414425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549312417	chr7:99414466-99414467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567297921	chr7:99414482-99414483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186104952	chr7:99414483-99414484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549777981	chr7:99414490-99414491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556283899	chr7:99414535-99414536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191398624	chr7:99414537-99414538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539135054	chr7:99414608-99414609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181364962	chr7:99414644-99414645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186891997	chr7:99414666-99414667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111488724	chr7:99414734-99414735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369519537	chr7:99414758-99414759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555734234	chr7:99414764-99414765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574001923	chr7:99414765-99414766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544200619	chr7:99414773-99414774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547811593	chr7:99414823-99414824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374235772	chr7:99414827-99414828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545129525	chr7:99414830-99414831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372481267	chr7:99414833-99414834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527911916	chr7:99414834-99414835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549246824	chr7:99414913-99414914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1965481	chr7:99414919-99414920	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531902813	chr7:99414960-99414961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559486451	chr7:99414962-99414963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540336320	chr7:99414963-99414964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112750465	chr7:99414964-99414965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369189370	chr7:99414967-99414968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538756121	chr7:99415017-99415018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547900777	chr7:99415080-99415081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528446106	chr7:99415088-99415089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566534052	chr7:99415103-99415104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113630028	chr7:99415119-99415120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113106769	chr7:99415124-99415125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560114107	chr7:99415216-99415217	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573936679	chr7:99415257-99415258	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146769315	chr7:99415293-99415294	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555875859	chr7:99415308-99415309	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577613131	chr7:99415342-99415343	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147920872	chr7:99415344-99415345	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553864146	chr7:99415351-99415352	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183116072	chr7:99415356-99415357	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99415200-99415600	Enhancers	HepG2	liver
2	chr7:99415200-99415600	Enhancers	HMEC	breast
3	chr7:99415400-99416200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:99415400-99416600	Enhancers	Adipose Nuclei	Adipose
5	chr7:99415600-99417400	Weak transcription	HepG2	liver
6	chr7:99416200-99416600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:99416600-99420000	Weak transcription	Adipose Nuclei	Adipose
8	chr7:99417400-99418000	Enhancers	Liver	Liver
9	chr7:99417400-99418200	Enhancers	HepG2	liver
10	chr7:99417600-99418000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:99418000-99418200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:99418000-99420400	Weak transcription	Liver	Liver
13	chr7:99418200-99419000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:99418200-99420000	Weak transcription	HepG2	liver
15	chr7:99418600-99420600	Enhancers	K562	blood
16	chr7:99419000-99419400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:99419400-99420600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:99419400-99432200	Enhancers	Fetal Intestine Small	intestine
19	chr7:99419600-99421400	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:99419600-99432000	Enhancers	Fetal Intestine Large	intestine
21	chr7:99419800-99421000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:99420000-99420200	Enhancers	HepG2	liver
23	chr7:99420000-99424000	Enhancers	Adipose Nuclei	Adipose
24	chr7:99420200-99420600	Weak transcription	HepG2	liver
25	chr7:99420200-99421400	Enhancers	Stomach Mucosa	stomach
26	chr7:99420400-99420800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:99420400-99421600	Enhancers	Liver	Liver

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