Variant report

Variant	nsv981511
Chromosome Location	chr7:66067376-66075921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:66071914-66072093	K562	blood:	n/a	n/a
2	BHLHE40	chr7:66071913-66072133	K562	blood:	n/a	chr7:66072105-66072121
3	CBX3	chr7:66071560-66072284	K562	blood:	n/a	n/a
4	CBX3	chr7:66071828-66072155	K562	blood:	n/a	n/a
5	CEBPB	chr7:66068809-66069560	HepG2	liver:	n/a	chr7:66068856-66068867 chr7:66069387-66069398
6	CEBPB	chr7:66069248-66069560	HepG2	liver:	n/a	chr7:66069387-66069398
7	CEBPB	chr7:66068738-66068956	A549	lung:	n/a	chr7:66068856-66068867
8	CEBPB	chr7:66072040-66072113	K562	blood:	n/a	n/a
9	CEBPB	chr7:66068801-66068977	K562	blood:	n/a	chr7:66068856-66068867
10	CEBPB	chr7:66069227-66069511	HepG2	liver:	n/a	chr7:66069387-66069398
11	CEBPB	chr7:66071940-66072235	K562	blood:	n/a	n/a
12	CEBPB	chr7:66068782-66069011	HepG2	liver:	n/a	chr7:66068856-66068867
13	CEBPB	chr7:66068852-66068878	H1-hESC	embryonic stem cell:	n/a	chr7:66068856-66068867
14	CTCF	chr7:66071920-66072070	SAEC	small airway:	n/a	n/a
15	CTCF	chr7:66071940-66072090	K562	blood:	n/a	n/a
16	CTCF	chr7:66072060-66072210	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr7:66072200-66072350	HepG2	liver:	n/a	n/a
18	CTCF	chr7:66071712-66072266	K562	blood:	n/a	n/a
19	CTCF	chr7:66071994-66072044	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:66071850-66072166	K562	blood:	n/a	n/a
21	CTCF	chr7:66071979-66072087	HepG2	liver:	n/a	n/a
22	CTCF	chr7:66072000-66072150	K562	blood:	n/a	n/a
23	CTCF	chr7:66071828-66072148	K562	blood:	n/a	n/a
24	CTCF	chr7:66071922-66072142	K562	blood:	n/a	n/a
25	CTCF	chr7:66071840-66071990	HVMF	connective:	n/a	n/a
26	CTCF	chr7:66068853-66068912	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:66072044-66072090	Lung_OC	lung:	n/a	n/a
28	CTCF	chr7:66071876-66072160	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:66071940-66072090	HepG2	liver:	n/a	n/a
30	CTCF	chr7:66071930-66072129	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:66071882-66072196	K562	blood:	n/a	n/a
32	CTCF	chr7:66071916-66072076	HepG2	liver:	n/a	n/a
33	CTCFL	chr7:66071987-66072132	K562	blood:	n/a	n/a
34	E2F6	chr7:66071806-66072161	K562	blood:	n/a	n/a
35	E2F6	chr7:66071914-66072156	K562	blood:	n/a	n/a
36	E2F6	chr7:66071910-66072165	K562	blood:	n/a	n/a
37	EGR1	chr7:66071958-66072285	K562	blood:	n/a	chr7:66072110-66072123
38	EGR1	chr7:66070297-66070494	K562	blood:	n/a	n/a
39	EGR1	chr7:66071917-66072254	K562	blood:	n/a	chr7:66072110-66072123
40	ELK1	chr7:66072292-66072295	K562	blood:	n/a	n/a
41	EP300	chr7:66069181-66069584	HepG2	liver:	n/a	n/a
42	EP300	chr7:66071963-66072161	K562	blood:	n/a	n/a
43	FOXA2	chr7:66074222-66074415	HepG2	liver:	n/a	n/a
44	HCFC1	chr7:66071962-66072156	K562	blood:	n/a	n/a
45	HDAC2	chr7:66069216-66069560	HepG2	liver:	n/a	n/a
46	HDAC2	chr7:66074212-66074434	HepG2	liver:	n/a	n/a
47	HEY1	chr7:66071809-66072097	K562	blood:	n/a	n/a
48	HMGN3	chr7:66071934-66072132	K562	blood:	n/a	n/a
49	JUN	chr7:66071982-66072172	K562	blood:	n/a	n/a
50	JUND	chr7:66071943-66072179	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:66072106-66072156	LNCaP	prostate:	n/a
2	chr7:66071977-66072027	HL-60	blood:	n/a
3	chr7:66072106-66072156	HRCEpiC	kidney:	n/a
4	chr7:66071719-66071769	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:66071719-66071769	HRE	kidney:	n/a
6	chr7:66071977-66072027	NHBE	bronchial:	n/a
7	chr7:66072065-66072115	AG10803	skin:	n/a
8	chr7:66072065-66072115	HRE	kidney:	n/a
9	chr7:66072065-66072115	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:66071977-66072027	Hepatocyte	liver:	n/a
11	chr7:66071977-66072027	RPTEC	kidney:	n/a
12	chr7:66072106-66072156	GM19239	blood:	n/a
13	chr7:66071977-66072027	HRPEpiC	eye:	n/a
14	chr7:66072106-66072156	SK-N-SH	brain:	n/a
15	chr7:66071977-66072027	U87	brain:	n/a
16	chr7:66072065-66072115	IMR90	lung:	fetal
17	chr7:66071977-66072027	PANC-1	pancreas:	n/a
18	chr7:66072065-66072115	T-47D	breast:	n/a
19	chr7:66071719-66071769	AG09319	gingival:	n/a
20	chr7:66072065-66072115	PrEC	prostate:	n/a
21	chr7:66072065-66072115	PANC-1	pancreas:	n/a
22	chr7:66071977-66072027	GM12891	blood:	n/a
23	chr7:66072106-66072156	BE2_C	brain:	n/a
24	chr7:66072065-66072115	NT2-D1	testis:	n/a
25	chr7:66072065-66072115	GM06990	blood:	n/a
26	chr7:66072065-66072115	Caco-2	colon:	n/a
27	chr7:66071719-66071769	A549	lung:	n/a
28	chr7:66072065-66072115	HCT-116	colon:	n/a
29	chr7:66071977-66072027	HEEpiC	esophagus:	n/a
30	chr7:66071719-66071769	T-47D	breast:	n/a
31	chr7:66072106-66072156	H1-hESC	embryonic stem cell:	embryo
32	chr7:66072065-66072115	SK-N-SH	brain:	n/a
33	chr7:66071977-66072027	Hela-S3	cervix:	n/a
34	chr7:66072106-66072156	BJ	skin:	n/a
35	chr7:66071719-66071769	GM12891	blood:	n/a
36	chr7:66072065-66072115	AG09319	gingival:	n/a
37	chr7:66072106-66072156	U87	brain:	n/a
38	chr7:66072065-66072115	MCF10A-Er-Src	breast:	n/a
39	chr7:66072065-66072115	GM19239	blood:	n/a
40	chr7:66071719-66071769	Hepatocyte	liver:	n/a
41	chr7:66072065-66072115	BE2_C	brain:	n/a
42	chr7:66072106-66072156	HNPCEpiC	eye:	n/a
43	chr7:66072106-66072156	AG04449	skin:	fetal
44	chr7:66071719-66071769	Jurkat	blood:	n/a
45	chr7:66071977-66072027	HAEpiC	amniotic membrane:	n/a
46	chr7:66071719-66071769	HCPEpiC	choroid plexus:	n/a
47	chr7:66071977-66072027	HMEC	breast:	n/a
48	chr7:66071977-66072027	NH-A	brain:	n/a
49	chr7:66071977-66072027	Jurkat	blood:	n/a
50	chr7:66072065-66072115	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:66065925..66067738-chr7:66091765..66093864,2	MCF-7	breast:
2	chr7:66022620..66023535-chr7:66071509..66072091,2	K562	blood:
3	chr7:66068353..66070947-chr7:66081695..66083819,2	K562	blood:

No data

Variant related genes	Relation type
RPL35P5	TF binding region
RPL35P5	CpG island

Extended variants
information (count: 392 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12540455	chr7:66067418-66067419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557837627	chr7:66067432-66067433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78615346	chr7:66067452-66067453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577722862	chr7:66067477-66067478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543593865	chr7:66067518-66067519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532646309	chr7:66067523-66067524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563188844	chr7:66067576-66067577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116657533	chr7:66067622-66067623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114216118	chr7:66067642-66067643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561718977	chr7:66067681-66067682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532688444	chr7:66067728-66067729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182167450	chr7:66067742-66067743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185175522	chr7:66067768-66067769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570917710	chr7:66067822-66067823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543400960	chr7:66067838-66067839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551241226	chr7:66067851-66067852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550377176	chr7:66067855-66067856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377044914	chr7:66067856-66067857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190071901	chr7:66067859-66067860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556114665	chr7:66067869-66067870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370113965	chr7:66067936-66067937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565098137	chr7:66067954-66067955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13245307	chr7:66067955-66067956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531711221	chr7:66067964-66067965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113084242	chr7:66067969-66067970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181255950	chr7:66067973-66067974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13235962	chr7:66067976-66067977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562922325	chr7:66067979-66067980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13245316	chr7:66067983-66067984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374816525	chr7:66067987-66067988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573522959	chr7:66068018-66068019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185362429	chr7:66068042-66068043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559232605	chr7:66068043-66068044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528418982	chr7:66068044-66068045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150626377	chr7:66068060-66068061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs199545807	chr7:66068062-66068063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564353568	chr7:66068086-66068087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533451938	chr7:66068093-66068094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13311962	chr7:66068129-66068130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs570233463	chr7:66068142-66068143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115651405	chr7:66068201-66068202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188275230	chr7:66068315-66068316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566353043	chr7:66068435-66068436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180790352	chr7:66068451-66068452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551333662	chr7:66068457-66068458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187648174	chr7:66068504-66068505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79009421	chr7:66068509-66068510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs556641475	chr7:66068517-66068518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573461794	chr7:66068525-66068526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139691404	chr7:66068549-66068550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66057600-66067600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:66058000-66067600	Weak transcription	Lung	lung
3	chr7:66058200-66068800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:66067000-66067400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:66067000-66067600	Enhancers	Placenta	Placenta
6	chr7:66067000-66067800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:66067000-66067800	Enhancers	HepG2	liver
8	chr7:66067000-66067800	Enhancers	NHEK	skin
9	chr7:66067200-66067600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:66067600-66067800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:66067600-66068600	Enhancers	Lung	lung
12	chr7:66067800-66068800	Weak transcription	HepG2	liver
13	chr7:66068800-66070000	Enhancers	HepG2	liver
14	chr7:66069000-66069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:66070000-66073800	Weak transcription	HepG2	liver
16	chr7:66071600-66072400	Enhancers	K562	blood
17	chr7:66071800-66072200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:66071800-66072200	Active TSS	HSMM	muscle
19	chr7:66072400-66084200	Weak transcription	K562	blood
20	chr7:66073000-66073600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:66073200-66074800	Enhancers	Adipose Nuclei	Adipose
22	chr7:66073600-66073800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:66073800-66074200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:66073800-66074400	Enhancers	HepG2	liver
25	chr7:66073800-66075000	Enhancers	Placenta	Placenta
26	chr7:66074000-66074400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:66074000-66074600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:66074200-66074600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:66074400-66075800	Weak transcription	HepG2	liver
30	chr7:66075000-66077200	Weak transcription	Placenta	Placenta
31	chr7:66075800-66076800	Enhancers	HepG2	liver

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