Variant report

Variant	esv1832491
Chromosome Location	chr7:56430775-56442787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:530)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:56440976-56442496	GM12878	blood:	n/a	n/a
2	BATF	chr7:56439727-56440134	GM12878	blood:	n/a	n/a
3	BATF	chr7:56438429-56438836	GM12878	blood:	n/a	n/a
4	BATF	chr7:56441464-56441866	GM12878	blood:	n/a	n/a
5	BATF	chr7:56439524-56440756	GM12878	blood:	n/a	n/a
6	BATF	chr7:56441021-56441428	GM12878	blood:	n/a	n/a
7	BATF	chr7:56438872-56439456	GM12878	blood:	n/a	n/a
8	BATF	chr7:56442645-56442830	GM12878	blood:	n/a	n/a
9	BATF	chr7:56437428-56437607	GM12878	blood:	n/a	n/a
10	BATF	chr7:56440170-56440754	GM12878	blood:	n/a	n/a
11	BATF	chr7:56438226-56439458	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:56437865-56440812	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:56440912-56442515	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:56437350-56437622	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:56437836-56440868	GM12878	blood:	n/a	chr7:56437839-56437852
16	BCL11A	chr7:56435572-56435743	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:56440941-56442557	GM12878	blood:	n/a	n/a
18	BHLHE40	chr7:56440907-56441906	HepG2	liver:	n/a	n/a
19	BHLHE40	chr7:56442086-56442477	HepG2	liver:	n/a	n/a
20	BHLHE40	chr7:56438197-56439314	HepG2	liver:	n/a	n/a
21	BHLHE40	chr7:56439495-56440612	HepG2	liver:	n/a	n/a
22	BRCA1	chr7:56441064-56441264	GM12878	blood:	n/a	n/a
23	CBX3	chr7:56437959-56440105	K562	blood:	n/a	n/a
24	CBX3	chr7:56437915-56438800	K562	blood:	n/a	n/a
25	CBX3	chr7:56438827-56440837	K562	blood:	n/a	n/a
26	CBX3	chr7:56440964-56441418	K562	blood:	n/a	n/a
27	CBX3	chr7:56440971-56442559	K562	blood:	n/a	n/a
28	CBX3	chr7:56440162-56440822	K562	blood:	n/a	n/a
29	CBX3	chr7:56441554-56442520	K562	blood:	n/a	n/a
30	CEBPB	chr7:56436722-56436761	HepG2	liver:	n/a	n/a
31	CEBPB	chr7:56436638-56436845	K562	blood:	n/a	n/a
32	CEBPB	chr7:56436551-56436928	K562	blood:	n/a	n/a
33	CHD1	chr7:56441237-56441247	GM12878	blood:	n/a	n/a
34	CHD2	chr7:56441230-56441262	GM12878	blood:	n/a	n/a
35	CHD2	chr7:56441229-56441247	K562	blood:	n/a	n/a
36	CTCF	chr7:56441120-56441270	GM12869	blood:	n/a	n/a
37	CTCF	chr7:56439463-56439577	LNCaP	prostate:	n/a	n/a
38	CTCF	chr7:56440431-56440506	LNCaP	prostate:	n/a	n/a
39	CTCF	chr7:56438386-56438459	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr7:56440533-56440577	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr7:56441160-56441310	GM12869	blood:	n/a	n/a
42	CTCF	chr7:56440998-56441363	K562	blood:	n/a	n/a
43	CTCF	chr7:56441160-56441310	RPTEC	kidney:	n/a	n/a
44	CTCF	chr7:56441736-56441819	LNCaP	prostate:	n/a	n/a
45	CTCF	chr7:56439084-56439093	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr7:56441140-56441290	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr7:56441234-56441259	LNCaP	prostate:	n/a	n/a
48	CTCF	chr7:56441160-56441310	AG09309	skin:	n/a	n/a
49	CTCF	chr7:56441100-56441250	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr7:56441221-56441277	Gliobla	brain:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56434617-56434667	Caco-2	colon:	n/a
2	chr7:56434617-56434667	GM06990	blood:	n/a
3	chr7:56437746-56437796	Caco-2	colon:	n/a
4	chr7:56434617-56434667	ovcar-3	ovarian:	n/a
5	chr7:56439703-56439753	HEK293	kidney:	embryo
6	chr7:56434951-56435001	RPTEC	kidney:	n/a
7	chr7:56434951-56435001	PrEC	prostate:	n/a
8	chr7:56435424-56435474	NT2-D1	testis:	n/a
9	chr7:56437009-56437059	CMK	blood:	n/a
10	chr7:56435424-56435474	T-47D	breast:	n/a
11	chr7:56439703-56439753	HEEpiC	esophagus:	n/a
12	chr7:56434951-56435001	Hepatocyte	liver:	n/a
13	chr7:56434239-56434289	GM12891	blood:	n/a
14	chr7:56437009-56437059	HNPCEpiC	eye:	n/a
15	chr7:56434617-56434667	T-47D	breast:	n/a
16	chr7:56442537-56442587	NT2-D1	testis:	n/a
17	chr7:56434617-56434667	Hepatocyte	liver:	n/a
18	chr7:56434239-56434289	PrEC	prostate:	n/a
19	chr7:56439703-56439753	HMEC	breast:	n/a
20	chr7:56434951-56435001	CMK	blood:	n/a
21	chr7:56437009-56437059	SK-N-SH_RA	brain:	n/a
22	chr7:56434951-56435001	K562	blood:	n/a
23	chr7:56434951-56435001	HCF	heart:	n/a
24	chr7:56434239-56434289	Caco-2	colon:	n/a
25	chr7:56442537-56442587	K562	blood:	n/a
26	chr7:56435424-56435474	H1-hESC	embryonic stem cell:	embryo
27	chr7:56442537-56442587	SK-N-SH_RA	brain:	n/a
28	chr7:56442537-56442587	BE2_C	brain:	n/a
29	chr7:56434951-56435001	Hela-S3	cervix:	n/a
30	chr7:56435424-56435474	ECC-1	luminal epithelium:	n/a
31	chr7:56434951-56435001	AG10803	skin:	n/a
32	chr7:56437009-56437059	BJ	skin:	n/a
33	chr7:56434617-56434667	GM12878	blood:	n/a
34	chr7:56437746-56437796	PANC-1	pancreas:	n/a
35	chr7:56437746-56437796	T-47D	breast:	n/a
36	chr7:56437009-56437059	HIPEpiC	eye:	n/a
37	chr7:56435424-56435474	SKMC	muscle:	n/a
38	chr7:56437746-56437796	AG09319	gingival:	n/a
39	chr7:56434951-56435001	Jurkat	blood:	n/a
40	chr7:56442537-56442587	HCPEpiC	choroid plexus:	n/a
41	chr7:56437009-56437059	Caco-2	colon:	n/a
42	chr7:56434239-56434289	HRPEpiC	eye:	n/a
43	chr7:56434239-56434289	NHDF-neo	bronchial:	n/a
44	chr7:56434239-56434289	HRCEpiC	kidney:	n/a
45	chr7:56439703-56439753	NHDF-neo	bronchial:	n/a
46	chr7:56437746-56437796	AG04450	lung:	fetal
47	chr7:56437746-56437796	SK-N-SH	brain:	n/a
48	chr7:56439703-56439753	ECC-1	luminal epithelium:	n/a
49	chr7:56439703-56439753	SAEC	small airway:	n/a
50	chr7:56439703-56439753	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000231299	TF binding region
ENSG00000231299	CpG island

Extended variants
information (count: 647 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181693039	chr7:56431718-56431719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs554624919	chr7:56432369-56432370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183393327	chr7:56432388-56432389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536462297	chr7:56432389-56432390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs554796737	chr7:56432434-56432435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573023192	chr7:56432442-56432443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187928647	chr7:56432482-56432483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368654185	chr7:56432491-56432492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs558584951	chr7:56432518-56432519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576782094	chr7:56432519-56432520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs74677717	chr7:56434206-56434207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191175560	chr7:56434219-56434220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7810941	chr7:56434225-56434226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs180833855	chr7:56434227-56434228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561524822	chr7:56434239-56434240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186555422	chr7:56434244-56434245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191007262	chr7:56434254-56434255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374190717	chr7:56434260-56434261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559135628	chr7:56434262-56434263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532948326	chr7:56434268-56434269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368982672	chr7:56434278-56434279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570372815	chr7:56434284-56434285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531207973	chr7:56434297-56434298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549631503	chr7:56434307-56434308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565850812	chr7:56434308-56434309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4634586	chr7:56434311-56434312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs386713596	chr7:56434318-56434319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553435645	chr7:56434320-56434321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571609389	chr7:56434321-56434322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539065064	chr7:56434335-56434336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557077672	chr7:56434338-56434339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548317395	chr7:56434342-56434343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568562402	chr7:56434361-56434362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543301045	chr7:56434364-56434365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149625624	chr7:56434365-56434366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182932005	chr7:56434392-56434393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540825384	chr7:56434397-56434398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559438527	chr7:56434411-56434412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532881828	chr7:56434413-56434414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113304964	chr7:56434420-56434421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185746809	chr7:56434423-56434424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563120890	chr7:56434448-56434449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530483402	chr7:56434450-56434451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549719562	chr7:56434463-56434464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59474264	chr7:56434474-56434475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190408075	chr7:56434484-56434485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183399316	chr7:56434492-56434493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571760527	chr7:56434497-56434498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538738523	chr7:56434498-56434499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557361893	chr7:56434504-56434505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56434200-56439400	Weak transcription	Right Atrium	heart
2	chr7:56434800-56436400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56436200-56436800	ZNF genes & repeats	Colonic Mucosa	Colon
4	chr7:56439000-56439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:56439400-56439800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr7:56439400-56439800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:56439400-56439800	ZNF genes & repeats	Pancreas	Pancrea
8	chr7:56439400-56439800	ZNF genes & repeats	Right Atrium	heart
9	chr7:56439400-56439800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
10	chr7:56439400-56439800	ZNF genes & repeats	Spleen	Spleen
11	chr7:56439600-56439800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr7:56439600-56439800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:56439600-56439800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:56439600-56439800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:56439600-56439800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:56439600-56439800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:56439600-56439800	ZNF genes & repeats	Aorta	Aorta
18	chr7:56439600-56439800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr7:56439600-56439800	ZNF genes & repeats	Esophagus	oesophagus
20	chr7:56439600-56439800	ZNF genes & repeats	Fetal Stomach	stomach
21	chr7:56439600-56439800	ZNF genes & repeats	Gastric	stomach
22	chr7:56439600-56439800	ZNF genes & repeats	Left Ventricle	heart
23	chr7:56439600-56439800	ZNF genes & repeats	Lung	lung
24	chr7:56439600-56439800	ZNF genes & repeats	Ovary	ovary
25	chr7:56439600-56439800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
26	chr7:56439600-56439800	ZNF genes & repeats	Right Ventricle	heart
27	chr7:56439600-56439800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr7:56439600-56439800	ZNF genes & repeats	Thymus	Thymus
29	chr7:56439600-56439800	ZNF genes & repeats	Dnd41	blood
30	chr7:56439800-56441000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:56439800-56441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:56439800-56441000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:56439800-56441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:56439800-56441000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:56439800-56441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:56439800-56441000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:56439800-56441000	Weak transcription	Aorta	Aorta
38	chr7:56439800-56441000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:56439800-56441000	Weak transcription	Fetal Stomach	stomach
40	chr7:56439800-56441000	Weak transcription	Gastric	stomach
41	chr7:56439800-56441000	Weak transcription	Left Ventricle	heart
42	chr7:56439800-56441000	Weak transcription	Lung	lung
43	chr7:56439800-56441000	Weak transcription	Ovary	ovary
44	chr7:56439800-56441000	Weak transcription	Right Ventricle	heart
45	chr7:56439800-56441000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:56439800-56441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:56439800-56441000	Weak transcription	Thymus	Thymus
48	chr7:56439800-56441000	Weak transcription	Spleen	Spleen
49	chr7:56439800-56441000	Weak transcription	Dnd41	blood
50	chr7:56439800-56442800	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links