Variant report

Variant	esv3426697
Chromosome Location	chr7:6489447-6490253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:6489539-6489776	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:6489508-6489819	HCT-116	colon:	n/a	chr7:6489689-6489700
3	CEBPB	chr7:6489497-6489876	Hela-S3	cervix:	n/a	chr7:6489689-6489700
4	CEBPB	chr7:6489591-6489761	HepG2	liver:	n/a	chr7:6489689-6489700
5	CEBPB	chr7:6489664-6489724	IMR90	lung:	n/a	chr7:6489689-6489700
6	CEBPB	chr7:6490224-6490536	K562	blood:	n/a	chr7:6490404-6490415
7	CEBPB	chr7:6489595-6489867	A549	lung:	n/a	chr7:6489689-6489700
8	CEBPB	chr7:6490245-6490568	HepG2	liver:	n/a	chr7:6490404-6490415
9	CEBPB	chr7:6489579-6489756	HepG2	liver:	n/a	chr7:6489689-6489700
10	CEBPB	chr7:6490215-6490611	Hela-S3	cervix:	n/a	chr7:6490404-6490415
11	CEBPB	chr7:6489504-6489871	HepG2	liver:	n/a	chr7:6489689-6489700
12	CEBPB	chr7:6489615-6489853	K562	blood:	n/a	chr7:6489689-6489700
13	CTCF	chr7:6489540-6489690	RPTEC	kidney:	n/a	n/a
14	FOS	chr7:6490242-6490569	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr7:6489529-6489850	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:6490241-6490516	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr7:6489526-6489847	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr7:6489525-6489859	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr7:6490244-6490571	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr7:6490241-6490565	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr7:6489526-6489858	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr7:6489396-6489909	HepG2	liver:	n/a	chr7:6489711-6489722
23	FOSL2	chr7:6490148-6490624	HepG2	liver:	n/a	chr7:6490428-6490439
24	FOSL2	chr7:6490241-6490662	HepG2	liver:	n/a	chr7:6490428-6490439
25	FOSL2	chr7:6489528-6489739	A549	lung:	n/a	chr7:6489711-6489722
26	FOSL2	chr7:6489526-6489947	HepG2	liver:	n/a	chr7:6489711-6489722
27	GTF2F1	chr7:6489665-6489696	Hela-S3	cervix:	n/a	n/a
28	HEY1	chr7:6489404-6489727	HepG2	liver:	n/a	n/a
29	HEY1	chr7:6490119-6490374	HepG2	liver:	n/a	n/a
30	JUND	chr7:6489613-6489855	HepG2	liver:	n/a	chr7:6489712-6489723
31	JUND	chr7:6490233-6490533	HepG2	liver:	n/a	chr7:6490427-6490438
32	JUND	chr7:6489552-6489815	HepG2	liver:	n/a	chr7:6489712-6489723
33	JUND	chr7:6489518-6489856	HepG2	liver:	n/a	chr7:6489712-6489723
34	JUND	chr7:6489489-6489856	A549	lung:	n/a	chr7:6489712-6489723
35	MAX	chr7:6489677-6489683	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:6490088-6490455	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:6486379-6490190	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:6489522-6489795	HCT-116	colon:	n/a	n/a
39	POLR2A	chr7:6489510-6489794	HCT-116	colon:	n/a	n/a
40	POLR2A	chr7:6488605-6489947	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:6490065-6490387	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr7:6489471-6490054	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr7:6489492-6489842	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:6489955-6490528	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr7:6489471-6489487	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:6489373-6489740	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr7:6489687-6489721	MCF-7	breast:	n/a	n/a
48	POLR2A	chr7:6490128-6490548	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr7:6490241-6490487	HCT-116	colon:	n/a	n/a
50	POLR2A	chr7:6489497-6489565	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:
2	chr7:6445380..6448087-chr7:6488948..6490884,2	K562	blood:
3	chr7:6488240..6490209-chr7:6490613..6492203,2	MCF-7	breast:
4	chr7:6486266..6487977-chr7:6489365..6491007,2	MCF-7	breast:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000164535	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000269781	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371268349	chr7:6489450-6489451	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs144549343	chr7:6489540-6489541	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs371007326	chr7:6489551-6489552	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs527929627	chr7:6489570-6489571	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs552331210	chr7:6489580-6489581	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs10226017	chr7:6489586-6489587	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184776189	chr7:6489594-6489595	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs368242239	chr7:6489611-6489612	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs4724807	chr7:6489614-6489615	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs112999694	chr7:6489617-6489618	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs556789259	chr7:6489619-6489620	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs568370542	chr7:6489676-6489677	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535831560	chr7:6489709-6489710	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538198194	chr7:6489723-6489724	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554019650	chr7:6489724-6489725	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556284942	chr7:6489727-6489728	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572550162	chr7:6489751-6489752	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540464351	chr7:6489772-6489773	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574957363	chr7:6489780-6489781	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371990854	chr7:6489803-6489804	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577081648	chr7:6489849-6489850	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535968582	chr7:6489874-6489875	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553991370	chr7:6489876-6489877	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200252962	chr7:6489886-6489887	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111866942	chr7:6489904-6489905	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189508081	chr7:6489912-6489913	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs541806563	chr7:6489943-6489944	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559847259	chr7:6489951-6489952	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs527372104	chr7:6489953-6489954	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551823317	chr7:6489978-6489979	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7781877	chr7:6489996-6489997	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376789091	chr7:6490004-6490005	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs386709827	chr7:6490006-6490007	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369985693	chr7:6490007-6490008	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs386709828	chr7:6490011-6490012	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7794459	chr7:6490012-6490013	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554121063	chr7:6490024-6490025	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566044373	chr7:6490038-6490039	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539959589	chr7:6490045-6490046	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192155497	chr7:6490046-6490047	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113538202	chr7:6490058-6490059	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375255718	chr7:6490081-6490082	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs36188719	chr7:6490112-6490113	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs397706239	chr7:6490127-6490128	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369523339	chr7:6490209-6490210	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544386747	chr7:6490248-6490249	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Bladder cancer	21909424	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
Autism	20685689	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6488200-6490600	Enhancers	Placenta	Placenta
2	chr7:6488200-6492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:6488200-6493200	Weak transcription	HMEC	breast
4	chr7:6488200-6493200	Weak transcription	HSMM	muscle
5	chr7:6488200-6493200	Weak transcription	NH-A	brain
6	chr7:6488200-6493200	Weak transcription	NHLF	lung
7	chr7:6488200-6499600	Weak transcription	Lung	lung
8	chr7:6488200-6499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:6488200-6499800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:6488200-6500200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:6488200-6500800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:6488400-6491200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:6488400-6500200	Weak transcription	HSMMtube	muscle
14	chr7:6488400-6505200	Weak transcription	Fetal Brain Male	brain
15	chr7:6488400-6505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:6488400-6505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:6488600-6499800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:6488600-6500000	Weak transcription	Primary T cells from cord blood	blood
19	chr7:6488800-6492800	Weak transcription	Osteobl	bone
20	chr7:6488800-6493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6488800-6493200	Weak transcription	NHDF-Ad	bronchial
22	chr7:6488800-6499800	Weak transcription	Fetal Brain Female	brain
23	chr7:6488800-6499800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:6488800-6500000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:6488800-6500000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:6488800-6500000	Weak transcription	Adipose Nuclei	Adipose
27	chr7:6488800-6500000	Weak transcription	Liver	Liver
28	chr7:6488800-6500000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:6488800-6500200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:6488800-6500200	Weak transcription	Spleen	Spleen
31	chr7:6488800-6500800	Weak transcription	Primary B cells from cord blood	blood
32	chr7:6488800-6500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:6488800-6501000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:6488800-6505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:6489000-6490400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:6489000-6490800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:6489000-6490800	Weak transcription	Fetal Intestine Large	intestine
40	chr7:6489000-6492000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:6489000-6493200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:6489000-6493200	Weak transcription	NHEK	skin
43	chr7:6489000-6499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:6489000-6499800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:6489000-6500000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:6489000-6500000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:6489000-6500000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:6489000-6500000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:6489000-6500200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:6489000-6500200	Weak transcription	Primary hematopoietic stem cells	blood

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