Variant report

Variant	nsv511944
Chromosome Location	chr7:6900243-6923882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:856)
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	chr7:6911365-6911638	GM12878	blood:	n/a	n/a
2	BATF	chr7:6911459-6911623	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	chr7:6911509-6911662	GM19240	blood:	n/a	n/a
7	CTCF	chr7:6911533-6911657	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:6911541-6911662	NHEK	skin:	n/a	n/a
9	CTCF	chr7:6911559-6911712	K562	blood:	n/a	n/a
10	CTCF	chr7:6911507-6911677	GM12892	blood:	n/a	n/a
11	CTCF	chr7:6911487-6911673	K562	blood:	n/a	n/a
12	CTCF	chr7:6911561-6911663	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:6911495-6911696	GM12878	blood:	n/a	n/a
14	CTCF	chr7:6911420-6911570	HMEC	breast:	n/a	n/a
15	CTCF	chr7:6911606-6911624	GM10248	blood:	n/a	n/a
16	CTCF	chr7:6911494-6911676	GM19238	blood:	n/a	n/a
17	CTCF	chr7:6911400-6911550	NHEK	skin:	n/a	n/a
18	CTCF	chr7:6911547-6911638	GM19239	blood:	n/a	n/a
19	CTCF	chr7:6911534-6911710	HepG2	liver:	n/a	n/a
20	CTCF	chr7:6911056-6911130	GM20000	blood:	n/a	n/a
21	CTCF	chr7:6911545-6911700	GM12878	blood:	n/a	n/a
22	CTCF	chr7:6911564-6911634	MCF-7	breast:	n/a	n/a
23	CTCF	chr7:6911460-6911610	GM12871	blood:	n/a	n/a
24	CTCF	chr7:6911501-6911599	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:6911625-6911669	GM10266	blood:	n/a	n/a
26	CTCF	chr7:6911542-6911650	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:6911496-6911773	K562	blood:	n/a	n/a
28	CTCF	chr7:6911538-6911673	MCF-7	breast:	n/a	n/a
29	CTCF	chr7:6911533-6911668	GM12891	blood:	n/a	n/a
30	CTCF	chr7:6911740-6911890	GM12873	blood:	n/a	n/a
31	FOS	chr7:6911198-6911275	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr7:6911500-6911688	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	chr7:6911405-6911721	HepG2	liver:	n/a	n/a
36	FOSL2	chr7:6913703-6914121	HepG2	liver:	n/a	chr7:6913918-6913929
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	chr7:6912189-6912428	HepG2	liver:	n/a	chr7:6912373-6912388
42	HNF4A	chr7:6912184-6912434	HepG2	liver:	n/a	chr7:6912373-6912388
43	HNF4G	chr7:6912199-6912494	HepG2	liver:	n/a	chr7:6912372-6912387
44	JUND	chr7:6913826-6914043	HepG2	liver:	n/a	n/a
45	JUND	chr7:6912215-6912416	HepG2	liver:	n/a	n/a
46	JUND	chr7:6913870-6913984	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:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6909188-6909238	IMR90	lung:	fetal
2	chr7:6909121-6909171	U87	brain:	n/a
3	chr7:6909188-6909238	IMR90	lung:	fetal
4	chr7:6909121-6909171	U87	brain:	n/a
5	chr7:6914498-6914548	PFSK-1	brain:	n/a
6	chr7:6915928-6915978	NT2-D1	testis:	n/a
7	chr7:6921561-6921611	AG09319	gingival:	n/a
8	chr7:6914498-6914548	HRCEpiC	kidney:	n/a
9	chr7:6915373-6915423	SAEC	small airway:	n/a
10	chr7:6910741-6910791	NHBE	bronchial:	n/a
11	chr7:6915894-6915944	ECC-1	luminal epithelium:	n/a
12	chr7:6911051-6911101	BE2_C	brain:	n/a
13	chr7:6915508-6915558	AG10803	skin:	n/a
14	chr7:6914498-6914548	ProgFib	skin:	n/a
15	chr7:6914289-6914339	SAEC	small airway:	n/a
16	chr7:6909121-6909171	K562	blood:	n/a
17	chr7:6915508-6915558	BJ	skin:	n/a
18	chr7:6909188-6909238	HCPEpiC	choroid plexus:	n/a
19	chr7:6914289-6914339	AG04450	lung:	fetal
20	chr7:6915373-6915423	AG10803	skin:	n/a
21	chr7:6910871-6910921	SKMC	muscle:	n/a
22	chr7:6921561-6921611	SK-N-MC	brain:	n/a
23	chr7:6915928-6915978	LNCaP	prostate:	n/a
24	chr7:6914289-6914339	ProgFib	skin:	n/a
25	chr7:6915928-6915978	MCF-7	breast:	n/a
26	chr7:6911051-6911101	ECC-1	luminal epithelium:	n/a
27	chr7:6909121-6909171	AoSMC	blood vessel:	n/a
28	chr7:6916089-6916139	NT2-D1	testis:	n/a
29	chr7:6910871-6910921	NHDF-neo	bronchial:	n/a
30	chr7:6914289-6914339	H1-hESC	embryonic stem cell:	embryo
31	chr7:6916089-6916139	HUVEC	blood vessel:	n/a
32	chr7:6915894-6915944	PFSK-1	brain:	n/a
33	chr7:6909188-6909238	AoSMC	blood vessel:	n/a
34	chr7:6910871-6910921	Hepatocyte	liver:	n/a
35	chr7:6914289-6914339	AG04449	skin:	fetal
36	chr7:6914498-6914548	PANC-1	pancreas:	n/a
37	chr7:6915928-6915978	H1-hESC	embryonic stem cell:	embryo
38	chr7:6911051-6911101	HL-60	blood:	n/a
39	chr7:6909188-6909238	Hela-S3	cervix:	n/a
40	chr7:6915894-6915944	LNCaP	prostate:	n/a
41	chr7:6914289-6914339	CMK	blood:	n/a
42	chr7:6915928-6915978	IMR90	lung:	fetal
43	chr7:6914289-6914339	HUVEC	blood vessel:	n/a
44	chr7:6916089-6916139	MCF-7	breast:	n/a
45	chr7:6914289-6914339	K562	blood:	n/a
46	chr7:6914498-6914548	SK-N-SH_RA	brain:	n/a
47	chr7:6909121-6909171	HUVEC	blood vessel:	n/a
48	chr7:6914289-6914339	HepG2	liver:	n/a
49	chr7:6910741-6910791	AG09319	gingival:	n/a
50	chr7:6910871-6910921	AG09319	gingival:	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: 874 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575422544	chr7:6900243-6900244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555899317	chr7:6900256-6900257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13235843	chr7:6900263-6900264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13225559	chr7:6900267-6900268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553485137	chr7:6900275-6900276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571986667	chr7:6900285-6900286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192314661	chr7:6900292-6900293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200402555	chr7:6900298-6900299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201132893	chr7:6900300-6900301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201322253	chr7:6900301-6900302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540233093	chr7:6900313-6900314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202240585	chr7:6900326-6900327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565391306	chr7:6900335-6900336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544133307	chr7:6900336-6900337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562240951	chr7:6900340-6900341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189474408	chr7:6900341-6900342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541520229	chr7:6900342-6900343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370919832	chr7:6900351-6900352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180742158	chr7:6900369-6900370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551052639	chr7:6900377-6900378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6946021	chr7:6900390-6900391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79111762	chr7:6900394-6900395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141952637	chr7:6900398-6900399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6946030	chr7:6900409-6900410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531454755	chr7:6900422-6900423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184266032	chr7:6900429-6900430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200853699	chr7:6900443-6900444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189570793	chr7:6900447-6900448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57335931	chr7:6900453-6900454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6463589	chr7:6900456-6900457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565679947	chr7:6900461-6900462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181268899	chr7:6900463-6900464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7802355	chr7:6900465-6900466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6463590	chr7:6900487-6900488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199565227	chr7:6900488-6900489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537709265	chr7:6900496-6900497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556126982	chr7:6900497-6900498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59414612	chr7:6900509-6900510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541690571	chr7:6900517-6900518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6965899	chr7:6900528-6900529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80174550	chr7:6900534-6900535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554860680	chr7:6900537-6900538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190346371	chr7:6900546-6900547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563505314	chr7:6900554-6900555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540625939	chr7:6900556-6900557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565182488	chr7:6900557-6900558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561694088	chr7:6900561-6900562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542933971	chr7:6900562-6900563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547233764	chr7:6900569-6900570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181567070	chr7:6900577-6900578	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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