Variant report

Variant	esv2753039
Chromosome Location	chr7:7294800-7317600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:222)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:222 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:7296386-7296536	K562	blood:	n/a	n/a
2	ATF2	chr7:7297919-7298790	GM12878	blood:	n/a	n/a
3	ATF2	chr7:7297543-7298817	GM12878	blood:	n/a	n/a
4	BACH1	chr7:7314449-7314764	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr7:7297904-7298302	GM12878	blood:	n/a	n/a
6	BATF	chr7:7297925-7298282	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:7297958-7298221	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:7297924-7298308	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:7297603-7297813	GM12878	blood:	n/a	n/a
10	BCLAF1	chr7:7297523-7298376	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:7297478-7298905	GM12878	blood:	n/a	n/a
12	BRCA1	chr7:7297821-7298200	GM12878	blood:	n/a	n/a
13	CEBPB	chr7:7314513-7314776	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr7:7304856-7304893	K562	blood:	n/a	n/a
15	CEBPB	chr7:7312003-7312226	HepG2	liver:	n/a	n/a
16	CEBPB	chr7:7311952-7312231	IMR90	lung:	n/a	n/a
17	CEBPB	chr7:7311830-7312360	HCT-116	colon:	n/a	n/a
18	CEBPB	chr7:7312593-7312776	HepG2	liver:	n/a	chr7:7312710-7312722 chr7:7312654-7312665 chr7:7312654-7312667 chr7:7312655-7312666
19	CEBPB	chr7:7311938-7312295	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr7:7311845-7312483	HCT-116	colon:	n/a	n/a
21	CHD1	chr7:7297583-7298471	GM12878	blood:	n/a	n/a
22	CHD2	chr7:7297588-7298253	GM12878	blood:	n/a	n/a
23	CTCF	chr7:7301120-7301194	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:7301112-7301230	MCF-7	breast:	n/a	n/a
25	CTCF	chr7:7301161-7301182	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:7297664-7297681	GM12878	blood:	n/a	n/a
27	CTCF	chr7:7301100-7301250	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr7:7314440-7314590	MCF-7	breast:	n/a	n/a
29	CTCF	chr7:7300980-7301130	HMF	breast:	n/a	n/a
30	CTCF	chr7:7301060-7301210	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:7301100-7301250	MCF-7	breast:	n/a	n/a
32	CTCF	chr7:7295853-7295892	Lung_OC	lung:	n/a	n/a
33	CTCF	chr7:7301075-7301243	HepG2	liver:	n/a	n/a
34	CTCF	chr7:7301158-7301183	HepG2	liver:	n/a	n/a
35	CTCF	chr7:7296770-7296771	GM12892	blood:	n/a	n/a
36	CTCF	chr7:7301060-7301210	HMEC	breast:	n/a	n/a
37	CUX1	chr7:7297699-7298793	GM12878	blood:	n/a	n/a
38	E2F4	chr7:7311984-7312333	MCF10A-Er-Src	breast:	n/a	n/a
39	EBF1	chr7:7297865-7298273	GM12878	blood:	n/a	n/a
40	EBF1	chr7:7297980-7298251	GM12878	blood:	n/a	n/a
41	EBF1	chr7:7298563-7298644	GM12878	blood:	n/a	n/a
42	ELK1	chr7:7297912-7298087	GM12878	blood:	n/a	n/a
43	EP300	chr7:7297675-7298470	GM12878	blood:	n/a	chr7:7298160-7298174 chr7:7297814-7297823
44	EP300	chr7:7297592-7298771	GM12878	blood:	n/a	chr7:7298518-7298532 chr7:7298160-7298174 chr7:7298601-7298615 chr7:7298560-7298569 chr7:7297814-7297823
45	EP300	chr7:7305359-7305636	SK-N-SH_RA	brain:	n/a	chr7:7305366-7305376
46	EP300	chr7:7314585-7314777	Hela-S3	cervix:	n/a	n/a
47	EP300	chr7:7296435-7296747	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr7:7311951-7312291	Hela-S3	cervix:	n/a	n/a
49	EP300	chr7:7297610-7298741	GM12878	blood:	n/a	chr7:7298518-7298532 chr7:7298160-7298174 chr7:7298601-7298615 chr7:7298560-7298569 chr7:7297814-7297823
50	FOS	chr7:7311961-7312304	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7307417..7311172-chr7:7314692..7318495,3	K562	blood:
2	chr7:7300064..7302482-chr7:7303800..7307118,4	K562	blood:
3	chr7:7295039..7296889-chr7:7310239..7311793,2	MCF-7	breast:
4	chr7:7304060..7306857-chr7:7307930..7309750,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1GALT1-1	chr7:7299183-7299227	XLOC_005981
2	lnc-C1GALT1-1	chr7:7299183-7299227	NR_108073
3	lnc-C1GALT1-1	chr7:7317216-7317410	XLOC_005981
4	lnc-C1GALT1-1	chr7:7294785-7294809	NR_108073
5	lnc-C1GALT1-1	chr7:7316875-7318401	NONHSAT119109
6	lnc-C1GALT1-1	chr7:7306539-7307073	ENSG00000230825
7	lnc-C1GALT1-1	chr7:7306868-7307073	XLOC_005981
8	lnc-C1GALT1-1	chr7:7306868-7307073	NR_108073
9	lnc-C1GALT1-1	chr7:7317216-7317700	NR_108073
10	lnc-C1GALT1-1	chr7:7317216-7317355	ENSG00000230825
11	lnc-C1GALT1-1	chr7:7311039-7311475	XLOC_005981
12	lnc-C1GALT1-1	chr7:7294785-7294809	XLOC_005981
13	lnc-C1GALT1-1	chr7:7317216-7317404	XLOC_005981

No data

Variant related genes	Relation type
ENSG00000230825	TF binding region
ENSG00000230825	chromatin interactions

Extended variants
information (count: 1047 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1047 , 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	rs17165674	chr7:7294802-7294803	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538522029	chr7:7294811-7294812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557205130	chr7:7294814-7294815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575474870	chr7:7294849-7294850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543794219	chr7:7294850-7294851	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555380811	chr7:7294857-7294858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139860689	chr7:7294869-7294870	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541132617	chr7:7294902-7294903	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561180554	chr7:7294906-7294907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111764385	chr7:7294964-7294965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116371215	chr7:7294975-7294976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545309170	chr7:7294982-7294983	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563987509	chr7:7295009-7295010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539274533	chr7:7295013-7295014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183308174	chr7:7295051-7295052	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548992563	chr7:7295053-7295054	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560877355	chr7:7295066-7295067	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187772722	chr7:7295092-7295093	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557122940	chr7:7295122-7295123	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546732305	chr7:7295147-7295148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528313784	chr7:7295175-7295176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145495790	chr7:7295232-7295233	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538802443	chr7:7295234-7295235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550547090	chr7:7295236-7295237	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200532511	chr7:7295276-7295277	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569121708	chr7:7295281-7295282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536148452	chr7:7295295-7295296	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539749506	chr7:7295300-7295301	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575589083	chr7:7295311-7295312	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10246435	chr7:7295333-7295334	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373080700	chr7:7295456-7295457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534763006	chr7:7295471-7295472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553037407	chr7:7295487-7295488	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578054744	chr7:7295494-7295495	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147680593	chr7:7295507-7295508	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572975577	chr7:7295563-7295564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377412778	chr7:7295600-7295601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563771770	chr7:7295606-7295607	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10275339	chr7:7295613-7295614	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62450016	chr7:7295658-7295659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs546768818	chr7:7295751-7295752	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528076609	chr7:7295775-7295776	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546646394	chr7:7295860-7295861	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564985826	chr7:7296001-7296002	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77873867	chr7:7296027-7296028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565641511	chr7:7296058-7296059	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568124190	chr7:7296061-7296062	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201378811	chr7:7296065-7296066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568958717	chr7:7296115-7296116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73049999	chr7:7296136-7296137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	18172304	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
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7250800-7296600	Weak transcription	Spleen	Spleen
2	chr7:7256800-7297000	Weak transcription	Lung	lung
3	chr7:7257600-7298200	Weak transcription	Ovary	ovary
4	chr7:7257600-7299800	Weak transcription	Fetal Stomach	stomach
5	chr7:7260400-7297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:7261600-7296800	Weak transcription	Aorta	Aorta
7	chr7:7261600-7298000	Weak transcription	Pancreas	Pancrea
8	chr7:7261600-7299400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:7271400-7298200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:7272400-7295000	Weak transcription	Small Intestine	intestine
11	chr7:7272400-7296600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:7273400-7311200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:7274600-7301600	Weak transcription	Brain Germinal Matrix	brain
14	chr7:7275600-7298200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:7275600-7305400	Weak transcription	Gastric	stomach
16	chr7:7276200-7298600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:7276800-7304000	Weak transcription	Fetal Brain Male	brain
18	chr7:7277200-7306200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:7277600-7296600	Weak transcription	Psoas Muscle	Psoas
20	chr7:7277600-7297800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:7278400-7299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:7279000-7296600	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:7279000-7296800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:7279200-7298600	Weak transcription	Thymus	Thymus
25	chr7:7279200-7309800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:7279800-7296400	Weak transcription	HMEC	breast
27	chr7:7279800-7300000	Weak transcription	Fetal Brain Female	brain
28	chr7:7279800-7301000	Weak transcription	A549	lung
29	chr7:7279800-7304600	Weak transcription	NHDF-Ad	bronchial
30	chr7:7280000-7296800	Weak transcription	Left Ventricle	heart
31	chr7:7280000-7298000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:7280000-7299800	Weak transcription	Placenta	Placenta
33	chr7:7280000-7300200	Weak transcription	NH-A	brain
34	chr7:7280000-7300400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:7280000-7302800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:7283400-7299800	Weak transcription	K562	blood
37	chr7:7283800-7300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:7284200-7298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:7284400-7299600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:7285000-7296600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:7285000-7300400	Weak transcription	Esophagus	oesophagus
42	chr7:7285000-7310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:7285400-7302800	Weak transcription	HSMMtube	muscle
44	chr7:7286200-7296600	Weak transcription	Fetal Thymus	thymus
45	chr7:7286200-7298000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:7287400-7296400	Weak transcription	Dnd41	blood
47	chr7:7287400-7301000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:7287600-7296400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:7287600-7297600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:7287800-7295400	Weak transcription	Duodenum Mucosa	Duodenum

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