Variant report

Variant	esv1836908
Chromosome Location	chr1:196142986-196177193
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196138443..196141334-chr1:196141782..196145397,4	K562	blood:
2	chr1:196144873..196146636-chr1:196151703..196153907,2	K562	blood:
3	chr1:196149563..196151314-chr1:196152505..196155179,2	MCF-7	breast:
4	chr1:196144873..196146636-chr1:196151703..196153907,2	K562	blood:
5	chr1:196176144..196178935-chr1:196181412..196184306,2	K562	blood:
6	chr1:196169821..196171868-chr1:196173071..196174937,2	K562	blood:
7	chr1:196170642..196172901-chr1:196175925..196177796,2	K562	blood:
8	chr1:196169821..196171868-chr1:196173071..196174937,2	K562	blood:
9	chr1:196170642..196172901-chr1:196175925..196177796,2	K562	blood:
10	chr1:196149563..196151314-chr1:196152505..196155179,2	MCF-7	breast:

No data

Extended variants
information (count: 983 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376190045	chr1:196145435-196145436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555740375	chr1:196145441-196145442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567527485	chr1:196145453-196145454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550352889	chr1:196145461-196145462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370569810	chr1:196145470-196145471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568826319	chr1:196145509-196145510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568151325	chr1:196145510-196145511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113157203	chr1:196145514-196145515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367866984	chr1:196145517-196145518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200174180	chr1:196145555-196145556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370909029	chr1:196145564-196145565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61620979	chr1:196145584-196145585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75380217	chr1:196145605-196145606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72750525	chr1:196145608-196145609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74538120	chr1:196145609-196145610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367783285	chr1:196145610-196145611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114876845	chr1:196145631-196145632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374341394	chr1:196145704-196145705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150732710	chr1:196145721-196145722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74580188	chr1:196145727-196145728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181144216	chr1:196145742-196145743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558064053	chr1:196145744-196145745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375301561	chr1:196145755-196145756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72750526	chr1:196145763-196145764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543426020	chr1:196145770-196145771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537732581	chr1:196145775-196145776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78586856	chr1:196145868-196145869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75057203	chr1:196145870-196145871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12407196	chr1:196145871-196145872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112970483	chr1:196145885-196145886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201036763	chr1:196145887-196145888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377719701	chr1:196145889-196145890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374551436	chr1:196145897-196145898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35520215	chr1:196145906-196145907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397801238	chr1:196145925-196145926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565315508	chr1:196145943-196145944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374191831	chr1:196145944-196145945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185610926	chr1:196145968-196145969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566032385	chr1:196145970-196145971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116509940	chr1:196145978-196145979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191158327	chr1:196145989-196145990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182535776	chr1:196146004-196146005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533942924	chr1:196146097-196146098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567589703	chr1:196146156-196146157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368598352	chr1:196146159-196146160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79332075	chr1:196146162-196146163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550087692	chr1:196146168-196146169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72750527	chr1:196146177-196146178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558974401	chr1:196146208-196146209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542304167	chr1:196146222-196146223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196145400-196149800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:196145800-196146000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:196147800-196148000	Enhancers	NHLF	lung
4	chr1:196149600-196151000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:196149600-196151400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:196149600-196151400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:196149600-196151400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:196149600-196151400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:196149600-196151400	Enhancers	Esophagus	oesophagus
10	chr1:196149600-196151400	Enhancers	Hela-S3	cervix
11	chr1:196149600-196151400	Enhancers	NH-A	brain
12	chr1:196149600-196151400	Enhancers	NHDF-Ad	bronchial
13	chr1:196149600-196151400	Enhancers	NHEK	skin
14	chr1:196149600-196151600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:196149600-196151600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:196149800-196150000	Enhancers	A549	lung
17	chr1:196149800-196150400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:196149800-196150600	Enhancers	Osteobl	bone
19	chr1:196149800-196151000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:196149800-196151200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:196149800-196151200	Enhancers	NHLF	lung
22	chr1:196149800-196151400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:196149800-196151400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:196149800-196151400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:196149800-196151400	Enhancers	HMEC	breast
26	chr1:196149800-196151600	Enhancers	HUVEC	blood vessel
27	chr1:196150000-196150200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr1:196150000-196150400	Flanking Active TSS	A549	lung
29	chr1:196150000-196150600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:196150000-196150600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:196150000-196150800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:196150000-196150800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:196150000-196151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:196150000-196151000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:196150000-196151400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:196150000-196151400	Enhancers	HSMM	muscle
37	chr1:196150400-196150600	Enhancers	A549	lung
38	chr1:196150400-196150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:196150600-196150800	Flanking Active TSS	A549	lung
40	chr1:196150600-196151000	Flanking Active TSS	Osteobl	bone
41	chr1:196150800-196151000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:196150800-196151200	Enhancers	A549	lung
43	chr1:196150800-196151400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:196151000-196151400	Enhancers	Osteobl	bone
45	chr1:196151400-196163200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:196151600-196155800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:196163000-196163600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:196163200-196163400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:196166600-196167600	Enhancers	HUVEC	blood vessel
50	chr1:196174200-196175200	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links