Variant report

Variant	esv2528820
Chromosome Location	chr1:186322922-186324414
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	CEBPB	chr1:186322889-186323222	HepG2	liver:	n/a	chr1:186323045-186323056
2	CEBPB	chr1:186322934-186323170	A549	lung:	n/a	chr1:186323045-186323056
3	FAM48A	chr1:186322877-186322994	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:186324063-186324293	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186321198..186323340-chr1:186324559..186327475,3	K562	blood:
2	chr1:186315129..186317112-chr1:186323166..186325594,2	K562	blood:

Variant related genes	Relation type
TPR	TF binding region
ENSG00000047410	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141153229	chr1:186322940-186322941	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571502986	chr1:186323004-186323005	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368762489	chr1:186323030-186323031	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538286411	chr1:186323037-186323038	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372727919	chr1:186323058-186323059	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72711793	chr1:186323067-186323068	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575286459	chr1:186323112-186323113	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192468375	chr1:186323128-186323129	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542266909	chr1:186323138-186323139	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555559916	chr1:186323154-186323155	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77805911	chr1:186323203-186323204	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534575570	chr1:186323248-186323249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541207836	chr1:186323274-186323275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559822646	chr1:186323288-186323289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs578193749	chr1:186323289-186323290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552863800	chr1:186323302-186323303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200007570	chr1:186323323-186323324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545112640	chr1:186323326-186323327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115005558	chr1:186323430-186323431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2141393	chr1:186323452-186323453	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78602606	chr1:186323469-186323470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116297777	chr1:186323508-186323509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368867115	chr1:186323554-186323555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2178215	chr1:186323599-186323600	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187516379	chr1:186323601-186323602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571501120	chr1:186323649-186323650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545921829	chr1:186323664-186323665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76682484	chr1:186323680-186323681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550316451	chr1:186323729-186323730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568484197	chr1:186323745-186323746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575607922	chr1:186323796-186323797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192037112	chr1:186323838-186323839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371632575	chr1:186323893-186323894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572578601	chr1:186323914-186323915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144567800	chr1:186323934-186323935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553521463	chr1:186323967-186323968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578193973	chr1:186324020-186324021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139877168	chr1:186324031-186324032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558159969	chr1:186324035-186324036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545634669	chr1:186324110-186324111	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs80094163	chr1:186324112-186324113	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs528714229	chr1:186324147-186324148	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs138529205	chr1:186324150-186324151	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561397136	chr1:186324186-186324187	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528596793	chr1:186324210-186324211	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184224489	chr1:186324213-186324214	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs565052606	chr1:186324228-186324229	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs141605795	chr1:186324232-186324233	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs550815006	chr1:186324248-186324249	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs568792669	chr1:186324274-186324275	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
4	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:186280000-186340400	Strong transcription	Dnd41	blood
6	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:186280000-186342400	Strong transcription	Osteobl	bone
10	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:186280000-186342600	Strong transcription	HSMM	muscle
12	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:186281000-186341800	Strong transcription	Liver	Liver
16	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
20	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:186281200-186342200	Strong transcription	NH-A	brain
22	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
27	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:186281800-186335600	Strong transcription	HMEC	breast
30	chr1:186281800-186342200	Strong transcription	K562	blood
31	chr1:186283400-186341000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:186283800-186327800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:186285200-186342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:186287000-186343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:186290000-186342000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:186293200-186340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:186293800-186340400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:186294400-186341000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:186294800-186338800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:186296600-186341400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:186298200-186323000	Strong transcription	Brain Anterior Caudate	brain
42	chr1:186298200-186338200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:186298200-186341400	Strong transcription	Primary B cells from cord blood	blood
44	chr1:186298200-186341400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:186298200-186341600	Strong transcription	A549	lung
46	chr1:186298400-186323400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:186298400-186326800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:186298600-186337200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr1:186298600-186338600	Strong transcription	Primary T cells from cord blood	blood
50	chr1:186298800-186323400	Strong transcription	Muscle Satellite Cultured Cells	--

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