Variant report

Variant	nsv436560
Chromosome Location	chr7:6899872-6924934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:854)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:6911459-6911623	GM12878	blood:	n/a	n/a
2	BATF	chr7:6911365-6911638	GM12878	blood:	n/a	n/a
3	BCL3	chr7:6916434-6916785	GM12878	blood:	n/a	n/a
4	CEBPB	chr7:6912527-6912646	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:6914862-6914979	K562	blood:	n/a	n/a
6	CTCF	chr7:6911533-6911668	GM12891	blood:	n/a	n/a
7	CTCF	chr7:6911495-6911696	GM12878	blood:	n/a	n/a
8	CTCF	chr7:6911541-6911662	NHEK	skin:	n/a	n/a
9	CTCF	chr7:6911056-6911130	GM20000	blood:	n/a	n/a
10	CTCF	chr7:6911625-6911669	GM10266	blood:	n/a	n/a
11	CTCF	chr7:6911509-6911662	GM19240	blood:	n/a	n/a
12	CTCF	chr7:6911534-6911710	HepG2	liver:	n/a	n/a
13	CTCF	chr7:6911507-6911677	GM12892	blood:	n/a	n/a
14	CTCF	chr7:6911545-6911700	GM12878	blood:	n/a	n/a
15	CTCF	chr7:6911561-6911663	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:6911501-6911599	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr7:6911564-6911634	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:6911542-6911650	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:6911400-6911550	NHEK	skin:	n/a	n/a
20	CTCF	chr7:6911533-6911657	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:6911487-6911673	K562	blood:	n/a	n/a
22	CTCF	chr7:6911420-6911570	HMEC	breast:	n/a	n/a
23	CTCF	chr7:6911740-6911890	GM12873	blood:	n/a	n/a
24	CTCF	chr7:6911460-6911610	GM12871	blood:	n/a	n/a
25	CTCF	chr7:6911559-6911712	K562	blood:	n/a	n/a
26	CTCF	chr7:6911547-6911638	GM19239	blood:	n/a	n/a
27	CTCF	chr7:6911494-6911676	GM19238	blood:	n/a	n/a
28	CTCF	chr7:6911606-6911624	GM10248	blood:	n/a	n/a
29	CTCF	chr7:6911496-6911773	K562	blood:	n/a	n/a
30	CTCF	chr7:6911538-6911673	MCF-7	breast:	n/a	n/a
31	FOS	chr7:6911500-6911688	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr7:6911198-6911275	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:6911520-6911670	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:6911488-6911707	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL2	chr7:6913703-6914121	HepG2	liver:	n/a	chr7:6913918-6913929
36	FOSL2	chr7:6911405-6911721	HepG2	liver:	n/a	n/a
37	FOSL2	chr7:6913744-6914123	HepG2	liver:	n/a	chr7:6913918-6913929
38	FOXA1	chr7:6913802-6914357	HepG2	liver:	n/a	n/a
39	FOXA1	chr7:6911517-6911980	HepG2	liver:	n/a	n/a
40	HEY1	chr7:6912130-6912403	HepG2	liver:	n/a	n/a
41	HNF4A	chr7:6912184-6912434	HepG2	liver:	n/a	chr7:6912373-6912388
42	HNF4A	chr7:6912189-6912428	HepG2	liver:	n/a	chr7:6912373-6912388
43	HNF4G	chr7:6912199-6912494	HepG2	liver:	n/a	chr7:6912372-6912387
44	JUND	chr7:6912215-6912416	HepG2	liver:	n/a	n/a
45	JUND	chr7:6913870-6913984	HepG2	liver:	n/a	n/a
46	JUND	chr7:6913826-6914043	HepG2	liver:	n/a	n/a
47	MAFF	chr7:6922881-6922953	HepG2	liver:	n/a	n/a
48	MYBL2	chr7:6912150-6912695	HepG2	liver:	n/a	n/a
49	MYC	chr7:6911145-6911385	MCF-7	breast:	n/a	n/a
50	MYC	chr7:6911186-6911288	MCF-7	breast:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6910741-6910791	PFSK-1	brain:	n/a
2	chr7:6914289-6914339	HEK293	kidney:	embryo
3	chr7:6914498-6914548	HCM	heart:	n/a
4	chr7:6915508-6915558	NT2-D1	testis:	n/a
5	chr7:6909121-6909171	CMK	blood:	n/a
6	chr7:6914498-6914548	Hela-S3	cervix:	n/a
7	chr7:6909188-6909238	A549	lung:	n/a
8	chr7:6915508-6915558	GM19239	blood:	n/a
9	chr7:6909121-6909171	SKMC	muscle:	n/a
10	chr7:6911051-6911101	AG10803	skin:	n/a
11	chr7:6916089-6916139	HRCEpiC	kidney:	n/a
12	chr7:6915928-6915978	HCM	heart:	n/a
13	chr7:6914498-6914548	ECC-1	luminal epithelium:	n/a
14	chr7:6911051-6911101	LNCaP	prostate:	n/a
15	chr7:6911051-6911101	ovcar-3	ovarian:	n/a
16	chr7:6915894-6915944	U87	brain:	n/a
17	chr7:6921561-6921611	AoSMC	blood vessel:	n/a
18	chr7:6915928-6915978	PrEC	prostate:	n/a
19	chr7:6911211-6911261	GM12878	blood:	n/a
20	chr7:6909121-6909171	GM06990	blood:	n/a
21	chr7:6911051-6911101	HRCEpiC	kidney:	n/a
22	chr7:6910871-6910921	HRPEpiC	eye:	n/a
23	chr7:6909188-6909238	MCF-7	breast:	n/a
24	chr7:6915894-6915944	RPTEC	kidney:	n/a
25	chr7:6916089-6916139	GM12891	blood:	n/a
26	chr7:6915508-6915558	NHBE	bronchial:	n/a
27	chr7:6910741-6910791	NB4	blood:	n/a
28	chr7:6915373-6915423	PFSK-1	brain:	n/a
29	chr7:6921561-6921611	AG04449	skin:	fetal
30	chr7:6915894-6915944	AG04450	lung:	fetal
31	chr7:6915508-6915558	SAEC	small airway:	n/a
32	chr7:6914289-6914339	GM19239	blood:	n/a
33	chr7:6910871-6910921	AG04450	lung:	fetal
34	chr7:6915373-6915423	HRE	kidney:	n/a
35	chr7:6911211-6911261	LNCaP	prostate:	n/a
36	chr7:6911051-6911101	GM12878	blood:	n/a
37	chr7:6915373-6915423	SK-N-MC	brain:	n/a
38	chr7:6909188-6909238	ProgFib	skin:	n/a
39	chr7:6916089-6916139	SK-N-SH	brain:	n/a
40	chr7:6915894-6915944	HUVEC	blood vessel:	n/a
41	chr7:6915508-6915558	SK-N-SH_RA	brain:	n/a
42	chr7:6915928-6915978	GM12878	blood:	n/a
43	chr7:6915928-6915978	ECC-1	luminal epithelium:	n/a
44	chr7:6911051-6911101	Jurkat	blood:	n/a
45	chr7:6909188-6909238	GM12892	blood:	n/a
46	chr7:6911211-6911261	K562	blood:	n/a
47	chr7:6915928-6915978	AG04450	lung:	fetal
48	chr7:6915373-6915423	AG09309	skin:	n/a
49	chr7:6910741-6910791	HepG2	liver:	n/a
50	chr7:6921561-6921611	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
OR7E136P	TF binding region
ENSG00000263457	TF binding region
UNC93B2	TF binding region
OR7E59P	TF binding region
OR7E136P	CpG island
ENSG00000263457	CpG island
UNC93B2	CpG island
OR7E59P	CpG island

Extended variants
information (count: 1038 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565021908	chr7:6899874-6899875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7811393	chr7:6899877-6899878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550595146	chr7:6899879-6899880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7810394	chr7:6899880-6899881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530281373	chr7:6899881-6899882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548491781	chr7:6899886-6899887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72506025	chr7:6899897-6899898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200799922	chr7:6899900-6899901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534155542	chr7:6899909-6899910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558760029	chr7:6899918-6899919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146779541	chr7:6899923-6899924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564016381	chr7:6899930-6899931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7794246	chr7:6899944-6899945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144245990	chr7:6899959-6899960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536517205	chr7:6899961-6899962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185597577	chr7:6899967-6899968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200480423	chr7:6899973-6899974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113223916	chr7:6899974-6899975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191252339	chr7:6899978-6899979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117703734	chr7:6899981-6899982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576834329	chr7:6899982-6899983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543972272	chr7:6899998-6899999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4724882	chr7:6900007-6900008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529654968	chr7:6900011-6900012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55752967	chr7:6900014-6900015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560439458	chr7:6900015-6900016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550463638	chr7:6900016-6900017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56335470	chr7:6900020-6900021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570966271	chr7:6900021-6900022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538309358	chr7:6900023-6900024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550022193	chr7:6900030-6900031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199767303	chr7:6900034-6900035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200505432	chr7:6900038-6900039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28408654	chr7:6900051-6900052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535880633	chr7:6900055-6900056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554901893	chr7:6900068-6900069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573218094	chr7:6900075-6900076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536597439	chr7:6900081-6900082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533856005	chr7:6900084-6900085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541109212	chr7:6900091-6900092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558674369	chr7:6900092-6900093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576983737	chr7:6900093-6900094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369191922	chr7:6900112-6900113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544259174	chr7:6900123-6900124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562275620	chr7:6900124-6900125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4720690	chr7:6900134-6900135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560402601	chr7:6900135-6900136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527945246	chr7:6900137-6900138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552598732	chr7:6900138-6900139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564667400	chr7:6900140-6900141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6895600-6901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:6899600-6900600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:6910800-6911200	Enhancers	Stomach Mucosa	stomach
4	chr7:6910800-6911200	Enhancers	NHEK	skin
5	chr7:6910800-6911600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:6910800-6914000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:6911200-6912400	Weak transcription	Stomach Mucosa	stomach
8	chr7:6911400-6913600	Enhancers	Fetal Intestine Small	intestine
9	chr7:6911800-6913000	Enhancers	HepG2	liver
10	chr7:6912400-6912800	Enhancers	Fetal Intestine Large	intestine
11	chr7:6912400-6912800	Enhancers	Stomach Mucosa	stomach
12	chr7:6913000-6913600	Weak transcription	HepG2	liver
13	chr7:6913400-6913800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:6913400-6914400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:6913600-6913800	Enhancers	HepG2	liver
16	chr7:6913600-6914800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:6914000-6914400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:6914400-6915000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:6921000-6923000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:6921400-6922600	Enhancers	NH-A	brain
21	chr7:6921400-6922800	Enhancers	HSMM	muscle
22	chr7:6921400-6923000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:6921600-6922200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:6921600-6923000	Enhancers	HSMMtube	muscle
25	chr7:6922000-6922200	Enhancers	Osteobl	bone
26	chr7:6922200-6922600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:6922200-6922600	Flanking Active TSS	Osteobl	bone
28	chr7:6922600-6922800	Enhancers	Osteobl	bone
29	chr7:6922600-6927600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:6923000-6927800	Weak transcription	HSMMtube	muscle

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