Variant report

Variant	esv1840621
Chromosome Location	chr7:5939594-5953089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:5942532-5942815	K562	blood:	n/a	chr7:5942734-5942743 chr7:5942734-5942745
2	CTCF	chr7:5939766-5939902	LNCaP	prostate:	n/a	chr7:5939824-5939845
3	CTCF	chr7:5939805-5939827	MCF-7	breast:	n/a	n/a
4	CTCF	chr7:5942920-5943070	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr7:5951144-5951196	GM13976	blood:	n/a	n/a
6	CTCF	chr7:5939660-5939810	MCF-7	breast:	n/a	n/a
7	EBF1	chr7:5948430-5948690	GM12878	blood:	n/a	chr7:5948588-5948601 chr7:5948590-5948599 chr7:5948590-5948600
8	MYC	chr7:5949836-5949929	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:5941123-5941419	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:5947008-5947087	K562	blood:	n/a	n/a
11	POLR2A	chr7:5947487-5947562	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:5946815-5947100	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:5946727-5947849	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:5949133-5949240	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:5949088-5949273	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:5946644-5947564	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:5951014-5951168	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:5946894-5946904	K562	blood:	n/a	n/a
19	POLR2A	chr7:5948126-5948594	K562	blood:	n/a	n/a
20	POLR2A	chr7:5949070-5949073	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:5941809-5941875	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:5948783-5949396	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:5948198-5948270	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:5952551-5952703	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:5948950-5948997	MCF-7	breast:	n/a	n/a
26	POLR2A	chr7:5948179-5948286	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr7:5947097-5947397	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:5952399-5952443	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:5948020-5949317	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:5946991-5947455	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:5946908-5947392	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:5949530-5950007	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:5948105-5948160	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:5948985-5949292	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:5946865-5947043	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr7:5949043-5949321	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:5947586-5947909	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:5946743-5946793	K562	blood:	n/a	n/a
39	POLR2A	chr7:5945710-5945924	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr7:5948400-5948421	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:5947260-5947278	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:5946976-5946988	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:5947475-5947557	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:5942512-5942620	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:5949015-5949360	GM12892	blood:	n/a	n/a
46	POLR2A	chr7:5948898-5949235	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:5946917-5946986	K562	blood:	n/a	n/a
48	POLR2A	chr7:5947573-5948169	HepG2	liver:	n/a	n/a
49	POLR2A	chr7:5946387-5946520	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr7:5948982-5948989	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5939791-5939841	HMEC	breast:	n/a
2	chr7:5939791-5939841	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:5941157-5941207	BE2_C	brain:	n/a
4	chr7:5939791-5939841	U87	brain:	n/a
5	chr7:5939791-5939841	HAEpiC	amniotic membrane:	n/a
6	chr7:5939791-5939841	GM12891	blood:	n/a
7	chr7:5939791-5939841	LNCaP	prostate:	n/a
8	chr7:5941157-5941207	HCM	heart:	n/a
9	chr7:5939791-5939841	HRCEpiC	kidney:	n/a
10	chr7:5939791-5939841	HCM	heart:	n/a
11	chr7:5939791-5939841	GM19239	blood:	n/a
12	chr7:5941157-5941207	SK-N-MC	brain:	n/a
13	chr7:5939791-5939841	GM12878	blood:	n/a
14	chr7:5941157-5941207	HEEpiC	esophagus:	n/a
15	chr7:5941157-5941207	HL-60	blood:	n/a
16	chr7:5941157-5941207	PFSK-1	brain:	n/a
17	chr7:5941157-5941207	AoSMC	blood vessel:	n/a
18	chr7:5941157-5941207	HMEC	breast:	n/a
19	chr7:5939791-5939841	MCF-7	breast:	n/a
20	chr7:5939791-5939841	SK-N-MC	brain:	n/a
21	chr7:5941157-5941207	MCF10A-Er-Src	breast:	n/a
22	chr7:5939791-5939841	NHDF-neo	bronchial:	n/a
23	chr7:5941157-5941207	H1-hESC	embryonic stem cell:	embryo
24	chr7:5941157-5941207	GM12891	blood:	n/a
25	chr7:5941157-5941207	MCF-7	breast:	n/a
26	chr7:5939791-5939841	RPTEC	kidney:	n/a
27	chr7:5939791-5939841	Caco-2	colon:	n/a
28	chr7:5939791-5939841	ECC-1	luminal epithelium:	n/a
29	chr7:5939791-5939841	PANC-1	pancreas:	n/a
30	chr7:5941157-5941207	PANC-1	pancreas:	n/a
31	chr7:5941157-5941207	U87	brain:	n/a
32	chr7:5941157-5941207	LNCaP	prostate:	n/a
33	chr7:5941157-5941207	HEK293	kidney:	embryo
34	chr7:5941157-5941207	SK-N-SH_RA	brain:	n/a
35	chr7:5941157-5941207	RPTEC	kidney:	n/a
36	chr7:5941157-5941207	Hepatocyte	liver:	n/a
37	chr7:5941157-5941207	K562	blood:	n/a
38	chr7:5939791-5939841	NT2-D1	testis:	n/a
39	chr7:5939791-5939841	SK-N-SH_RA	brain:	n/a
40	chr7:5941157-5941207	HUVEC	blood vessel:	n/a
41	chr7:5941157-5941207	NHDF-neo	bronchial:	n/a
42	chr7:5939791-5939841	IMR90	lung:	fetal
43	chr7:5941157-5941207	Jurkat	blood:	n/a
44	chr7:5941157-5941207	Caco-2	colon:	n/a
45	chr7:5939791-5939841	NH-A	brain:	n/a
46	chr7:5939791-5939841	ProgFib	skin:	n/a
47	chr7:5939791-5939841	HNPCEpiC	eye:	n/a
48	chr7:5939791-5939841	GM06990	blood:	n/a
49	chr7:5941157-5941207	AG04449	skin:	fetal
50	chr7:5939791-5939841	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
CCZ1	TF binding region
CCZ1	CpG island

Extended variants
information (count: 782 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2528310	chr7:5939594-5939595	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs62453575	chr7:5939595-5939596	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373171286	chr7:5939635-5939636	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62453576	chr7:5939651-5939652	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142614874	chr7:5939659-5939660	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs118099115	chr7:5939694-5939695	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186002759	chr7:5939723-5939724	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529772863	chr7:5939763-5939764	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190415522	chr7:5939783-5939784	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566730939	chr7:5939827-5939828	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs577244373	chr7:5939841-5939842	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs534172641	chr7:5939852-5939853	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552435211	chr7:5939944-5939945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370275453	chr7:5940002-5940003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570846172	chr7:5940015-5940016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538206685	chr7:5940017-5940018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556305434	chr7:5940027-5940028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145681932	chr7:5940032-5940033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374188325	chr7:5940066-5940067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556314773	chr7:5940072-5940073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199548480	chr7:5940136-5940137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573071922	chr7:5940137-5940138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372092894	chr7:5940167-5940168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565160061	chr7:5940175-5940176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201083319	chr7:5940207-5940208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577078309	chr7:5940215-5940216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544164883	chr7:5940238-5940239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562346627	chr7:5940276-5940277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574555358	chr7:5940385-5940386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529750743	chr7:5940388-5940389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182707126	chr7:5940389-5940390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559845569	chr7:5940402-5940403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541673918	chr7:5940403-5940404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527866183	chr7:5940414-5940415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368319489	chr7:5940441-5940442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371704433	chr7:5940450-5940451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375320217	chr7:5940453-5940454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531915785	chr7:5940455-5940456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369347777	chr7:5940462-5940463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550109387	chr7:5940465-5940466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568354484	chr7:5940493-5940494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535898888	chr7:5940511-5940512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200167567	chr7:5940538-5940539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554285410	chr7:5940544-5940545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566212006	chr7:5940607-5940608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533938845	chr7:5940674-5940675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558808133	chr7:5940725-5940726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150550388	chr7:5940771-5940772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527259107	chr7:5940816-5940817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113124261	chr7:5940846-5940847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5935200-5951600	Weak transcription	HMEC	breast
2	chr7:5937400-5939600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:5937600-5939800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:5937600-5948600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:5937800-5939600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:5937800-5939800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:5938000-5950600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:5938200-5941200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:5938200-5941200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:5938200-5941200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:5938200-5942400	Weak transcription	Fetal Lung	lung
12	chr7:5938200-5942600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:5938200-5943200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:5938200-5943400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:5938200-5944400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:5938200-5944400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:5938200-5949400	Weak transcription	Brain Substantia Nigra	brain
18	chr7:5938200-5949600	Weak transcription	HUVEC	blood vessel
19	chr7:5938200-5950600	Weak transcription	Colonic Mucosa	Colon
20	chr7:5938200-5952200	Weak transcription	NHDF-Ad	bronchial
21	chr7:5938200-5952400	Weak transcription	GM12878-XiMat	blood
22	chr7:5938200-5952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:5938200-5955600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:5938200-5962800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:5938200-5963400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:5938200-5969400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:5938400-5941000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:5938400-5941000	Weak transcription	Fetal Intestine Small	intestine
29	chr7:5938400-5941800	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:5938400-5942200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:5938400-5942200	Weak transcription	Lung	lung
32	chr7:5938400-5942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:5938400-5942600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:5938400-5942600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:5938400-5942600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:5938400-5942600	Weak transcription	Ovary	ovary
37	chr7:5938400-5942600	Weak transcription	Pancreas	Pancrea
38	chr7:5938400-5942600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:5938400-5943200	Weak transcription	Left Ventricle	heart
40	chr7:5938400-5943400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:5938400-5943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:5938400-5945600	Weak transcription	Placenta	Placenta
43	chr7:5938400-5945800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:5938400-5946000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:5938400-5946000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:5938400-5949600	Weak transcription	Esophagus	oesophagus
47	chr7:5938400-5949600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:5938400-5949600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:5938400-5950600	Weak transcription	Osteobl	bone
50	chr7:5938400-5950800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links