Variant report

Variant	esv2829981
Chromosome Location	chr1:241869867-241887181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:241861393..241864784-chr1:241868240..241872029,3	K562	blood:
2	chr1:241878774..241881099-chr1:241910973..241913352,2	MCF-7	breast:
3	chr1:241801408..241803532-chr1:241873969..241876171,2	K562	blood:
4	chr1:241871925..241872739-chr1:241980132..241980807,2	MCF-7	breast:
5	chr1:241870233..241871019-chr1:241964248..241964969,2	MCF-7	breast:
6	chr1:241872290..241875094-chr1:241880689..241882589,2	K562	blood:
7	chr1:241879827..241882365-chr1:241888166..241889680,2	K562	blood:
8	chr1:241799109..241806555-chr1:241863719..241873987,19	MCF-7	breast:
9	chr1:241866993..241870450-chr1:241870800..241873707,3	K562	blood:
10	chr1:241810319..241812697-chr1:241877197..241879371,2	K562	blood:
11	chr1:241871855..241872397-chr1:241980123..241980733,2	MCF-7	breast:
12	chr1:241877581..241881252-chr1:241885318..241887749,3	K562	blood:
13	chr1:241875978..241877712-chr1:241881296..241884292,2	K562	blood:
14	chr1:241868637..241872305-chr1:241874250..241878079,3	K562	blood:
15	chr1:241872709..241875051-chr1:241876691..241878407,2	K562	blood:
16	chr1:241868637..241872305-chr1:241874250..241878079,3	K562	blood:
17	chr1:241864491..241866562-chr1:241869052..241871917,4	MCF-7	breast:
18	chr1:241800887..241803348-chr1:241881120..241884579,4	K562	blood:
19	chr1:241871145..241872742-chr1:242017335..242019285,2	K562	blood:
20	chr1:241872290..241875094-chr1:241880689..241882589,2	K562	blood:
21	chr1:241796539..241799251-chr1:241868228..241871889,3	K562	blood:
22	chr1:241861393..241865984-chr1:241866809..241872029,8	K562	blood:
23	chr1:241866993..241870450-chr1:241870800..241873707,3	K562	blood:
24	chr1:241884402..241886611-chr1:241891831..241894374,2	K562	blood:
25	chr1:241871850..241872357-chr1:241964200..241964778,2	MCF-7	breast:
26	chr1:241868961..241870541-chr1:241927631..241929626,2	K562	blood:
27	chr1:241877581..241881252-chr1:241885318..241887749,3	K562	blood:
28	chr1:241872967..241875360-chr1:241876691..241879967,3	K562	blood:
29	chr1:241802159..241804895-chr1:241872554..241874822,2	MCF-7	breast:
30	chr1:241875978..241878083-chr1:241881296..241884292,3	K562	blood:
31	chr1:241877225..241878804-chr1:241976973..241979432,2	K562	blood:
32	chr1:241884855..241887577-chr1:241896978..241898586,2	MCF-7	breast:
33	chr1:241863537..241865506-chr1:241879687..241882373,2	K562	blood:
34	chr1:241801559..241805106-chr1:241884724..241888012,4	K562	blood:
35	chr1:241880701..241882545-chr1:241973011..241975030,2	MCF-7	breast:
36	chr1:241872967..241875360-chr1:241876691..241879967,3	K562	blood:
37	chr1:241872709..241875051-chr1:241876691..241878407,2	K562	blood:
38	chr1:241875978..241878083-chr1:241881296..241884292,3	K562	blood:
39	chr1:241875978..241877712-chr1:241881296..241884292,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203668	chromatin interactions
ENSG00000162843	chromatin interactions
ENSG00000054277	chromatin interactions

Extended variants
information (count: 669 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7417070	chr1:241869867-241869868	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544930579	chr1:241869909-241869910	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12734054	chr1:241870050-241870051	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12734249	chr1:241870149-241870150	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185477213	chr1:241870181-241870182	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188920497	chr1:241870197-241870198	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181666995	chr1:241870206-241870207	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35090584	chr1:241870239-241870240	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544759638	chr1:241870263-241870264	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565125656	chr1:241870321-241870322	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186194856	chr1:241870338-241870339	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550313136	chr1:241870365-241870366	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138280098	chr1:241870369-241870370	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192052940	chr1:241870375-241870376	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546611013	chr1:241870395-241870396	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs566507320	chr1:241870416-241870417	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559822555	chr1:241870436-241870437	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539159416	chr1:241870441-241870442	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552381899	chr1:241870523-241870524	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373114250	chr1:241870546-241870547	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376079471	chr1:241870575-241870576	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs149606632	chr1:241870591-241870592	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114845408	chr1:241870604-241870605	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12046349	chr1:241870629-241870630	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6697790	chr1:241870668-241870669	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575101187	chr1:241870685-241870686	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534471101	chr1:241870692-241870693	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6682807	chr1:241870702-241870703	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572738971	chr1:241870708-241870709	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561191661	chr1:241870740-241870741	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184130963	chr1:241870770-241870771	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185821226	chr1:241870787-241870788	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575258501	chr1:241870807-241870808	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544016878	chr1:241870854-241870855	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528584588	chr1:241870940-241870941	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191072241	chr1:241870942-241870943	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77379801	chr1:241870952-241870953	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546717097	chr1:241870972-241870973	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs11442397	chr1:241870991-241870992	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529966161	chr1:241871003-241871004	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12028060	chr1:241871010-241871011	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560576172	chr1:241871013-241871014	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs550989748	chr1:241871028-241871029	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532400619	chr1:241871036-241871037	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs530622479	chr1:241871046-241871047	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552499698	chr1:241871064-241871065	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569263344	chr1:241871075-241871076	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142610972	chr1:241871109-241871110	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538310050	chr1:241871150-241871151	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548825607	chr1:241871171-241871172	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241865000-241870200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:241866600-241870200	Enhancers	NHEK	skin
3	chr1:241868000-241871600	Enhancers	HMEC	breast
4	chr1:241868800-241871800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:241869000-241870600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:241869000-241871200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:241869000-241871800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:241869000-241871800	Enhancers	Hela-S3	cervix
9	chr1:241869200-241871200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:241869200-241871200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:241869200-241871400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:241869200-241871400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:241869200-241872000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:241869400-241870400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:241869400-241870400	Enhancers	A549	lung
16	chr1:241869400-241870600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:241869400-241870600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:241869400-241870600	Enhancers	Placenta	Placenta
19	chr1:241869400-241870600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:241869400-241870800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:241869400-241871000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:241869400-241871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:241869400-241871000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:241869400-241871000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:241869400-241871000	Enhancers	Fetal Thymus	thymus
26	chr1:241869400-241871200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:241869400-241871400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:241869400-241871400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:241869400-241871400	Enhancers	Thymus	Thymus
30	chr1:241869400-241871400	Enhancers	NHDF-Ad	bronchial
31	chr1:241869400-241871400	Enhancers	Osteobl	bone
32	chr1:241869400-241871800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:241869600-241870000	Weak transcription	Esophagus	oesophagus
34	chr1:241869600-241871000	Enhancers	Primary T cells from cord blood	blood
35	chr1:241869600-241871000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:241869600-241871200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:241869600-241871400	Enhancers	HSMM	muscle
38	chr1:241870000-241871000	Enhancers	Esophagus	oesophagus
39	chr1:241870200-241870600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:241870200-241871000	Flanking Active TSS	NHEK	skin
41	chr1:241870200-241871200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:241870400-241871000	Flanking Active TSS	A549	lung
43	chr1:241870600-241871400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:241871000-241871400	Enhancers	A549	lung
45	chr1:241871000-241871800	Enhancers	NHEK	skin
46	chr1:241871800-241879200	Weak transcription	NHEK	skin
47	chr1:241871800-241880200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:241874800-241875000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:241875000-241887800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:241877200-241878400	Enhancers	Brain Germinal Matrix	brain

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