Variant report

Variant	esv1803591
Chromosome Location	chr1:174594575-174642336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:174617608-174617676	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:174635164-174635969	HepG2	liver:	n/a	n/a
3	ATF1	chr1:174618881-174619077	K562	blood:	n/a	n/a
4	BHLHE40	chr1:174635385-174635877	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:174633048-174633172	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:174635364-174635745	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:174625655-174625675	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:174617501-174617721	HepG2	liver:	n/a	chr1:174617640-174617651
9	CHD2	chr1:174635451-174635706	HepG2	liver:	n/a	n/a
10	CTCF	chr1:174629060-174629210	HAc	cerebellar:	n/a	n/a
11	CTCF	chr1:174628980-174629130	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr1:174621868-174621927	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:174629000-174629230	NHEK	skin:	n/a	n/a
14	CTCF	chr1:174621843-174621921	HepG2	liver:	n/a	n/a
15	CTCF	chr1:174628980-174629130	HMEC	breast:	n/a	n/a
16	CTCF	chr1:174629040-174629190	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr1:174621680-174621830	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr1:174638460-174638610	GM12868	blood:	n/a	n/a
19	CTCF	chr1:174629240-174629390	HRE	kidney:	n/a	n/a
20	CTCF	chr1:174629120-174629270	HMEC	breast:	n/a	n/a
21	CTCF	chr1:174629020-174629170	SAEC	small airway:	n/a	n/a
22	CTCF	chr1:174629080-174629230	RPTEC	kidney:	n/a	n/a
23	CTCF	chr1:174629020-174629170	RPTEC	kidney:	n/a	n/a
24	E2F4	chr1:174597168-174597324	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr1:174612737-174613015	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr1:174611226-174611347	MCF10A-Er-Src	breast:	n/a	n/a
27	ELF1	chr1:174621715-174621973	GM12878	blood:	n/a	n/a
28	EP300	chr1:174635376-174635795	HepG2	liver:	n/a	n/a
29	EP300	chr1:174635233-174635892	HepG2	liver:	n/a	n/a
30	EP300	chr1:174630006-174630016	HepG2	liver:	n/a	n/a
31	EP300	chr1:174635263-174635900	HepG2	liver:	n/a	n/a
32	FAM48A	chr1:174636519-174636547	GM12878	blood:	n/a	n/a
33	FOS	chr1:174628878-174629332	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:174628854-174629376	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:174632174-174632444	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr1:174628843-174629468	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:174632177-174632433	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:174630902-174631016	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr1:174640983-174641317	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr1:174628865-174629605	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:174632255-174632360	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr1:174609363-174609489	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr1:174641006-174641315	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr1:174632218-174632409	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr1:174641065-174641229	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr1:174640999-174641323	MCF10A-Er-Src	breast:	n/a	n/a
47	FOSL1	chr1:174628879-174629368	HCT-116	colon:	n/a	n/a
48	FOSL2	chr1:174635404-174635784	HepG2	liver:	n/a	chr1:174635590-174635601
49	FOXA1	chr1:174635357-174635859	HepG2	liver:	n/a	n/a
50	FOXA1	chr1:174622090-174622443	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174633951..174635550-chr1:174711716..174714165,2	K562	blood:
2	chr1:174585484..174588132-chr1:174595447..174597220,2	K562	blood:

No data

Variant related genes	Relation type
RABGAP1L	TF binding region

Extended variants
information (count: 1702 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1702 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12067463	chr1:174594575-174594576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543577004	chr1:174594579-174594580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563908535	chr1:174594587-174594588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59190079	chr1:174594608-174594609	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs545077995	chr1:174594618-174594619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564863568	chr1:174594621-174594622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113876262	chr1:174594714-174594715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10912823	chr1:174594740-174594741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs561130221	chr1:174594765-174594766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530023102	chr1:174594824-174594825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191045838	chr1:174594828-174594829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139638028	chr1:174594861-174594862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538500742	chr1:174594895-174594896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181816898	chr1:174594935-174594936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566069436	chr1:174594955-174594956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534672000	chr1:174594959-174594960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10912824	chr1:174594984-174594985	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs574743641	chr1:174594995-174594996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186537287	chr1:174595070-174595071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115830397	chr1:174595091-174595092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112096269	chr1:174595156-174595157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16847257	chr1:174595172-174595173	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546105775	chr1:174595222-174595223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12067791	chr1:174595227-174595228	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572185849	chr1:174595234-174595235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35648721	chr1:174595255-174595256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540984062	chr1:174595261-174595262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190547977	chr1:174595359-174595360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534114846	chr1:174595382-174595383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554289297	chr1:174595386-174595387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529764192	chr1:174595501-174595502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183196263	chr1:174595506-174595507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563472402	chr1:174595529-174595530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144274197	chr1:174595544-174595545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188213095	chr1:174595546-174595547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114971640	chr1:174595583-174595584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191009190	chr1:174595610-174595611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75306743	chr1:174595660-174595661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568103958	chr1:174595706-174595707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61826924	chr1:174595712-174595713	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs557611175	chr1:174595732-174595733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571077332	chr1:174595736-174595737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183280001	chr1:174595788-174595789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572619324	chr1:174595851-174595852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187503787	chr1:174595856-174595857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541126933	chr1:174595888-174595889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114378674	chr1:174595898-174595899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574472583	chr1:174595922-174595923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576501586	chr1:174596016-174596017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191349292	chr1:174596042-174596043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174572800-174606200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:174582800-174606400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:174587600-174594600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:174587600-174606600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:174587600-174609200	Weak transcription	Pancreas	Pancrea
6	chr1:174593600-174595200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:174594000-174595200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:174594600-174594800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:174594600-174595400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:174594600-174597400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:174594800-174595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:174595200-174595400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:174595200-174595800	Enhancers	Fetal Intestine Small	intestine
14	chr1:174595200-174596000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:174595200-174596000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:174595200-174596000	Enhancers	Fetal Intestine Large	intestine
17	chr1:174595200-174596000	Enhancers	HSMM	muscle
18	chr1:174595200-174597000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:174595400-174595800	Enhancers	HSMMtube	muscle
20	chr1:174595400-174596000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:174595400-174609400	Weak transcription	GM12878-XiMat	blood
22	chr1:174595600-174596000	Enhancers	NH-A	brain
23	chr1:174595600-174596600	Enhancers	Brain Hippocampus Middle	brain
24	chr1:174595600-174597400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:174595600-174609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:174595800-174596200	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:174596000-174596800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:174596000-174597000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:174596000-174598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:174596000-174606800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:174596600-174609400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:174597000-174597200	Enhancers	Fetal Intestine Large	intestine
33	chr1:174597800-174598600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:174598200-174598600	Weak transcription	Fetal Intestine Large	intestine
35	chr1:174598200-174606200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:174598400-174598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:174598600-174608600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:174599000-174599200	Weak transcription	Fetal Intestine Large	intestine
39	chr1:174603000-174606200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:174603000-174606600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:174603200-174616000	Weak transcription	Fetal Intestine Large	intestine
42	chr1:174603600-174606200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:174604000-174606600	Weak transcription	Primary T cells from cord blood	blood
44	chr1:174604200-174608800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:174604400-174604600	Active TSS	Ovary	ovary
46	chr1:174604400-174606200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:174604400-174606200	Weak transcription	Adipose Nuclei	Adipose
48	chr1:174604600-174606600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:174604600-174613800	Weak transcription	Ovary	ovary
50	chr1:174604800-174608200	Weak transcription	Primary hematopoietic stem cells	blood

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