Variant report

Variant	esv3435889
Chromosome Location	chr1:154854587-154856650
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154530689..154533071-chr1:154854779..154856667,2	K562	blood:
2	chr1:154854688..154856959-chr1:154860372..154862285,3	K562	blood:
3	chr1:154807296..154809029-chr1:154856227..154858930,2	K562	blood:
4	chr1:154845435..154848130-chr1:154852897..154855839,2	MCF-7	breast:
5	chr1:154854131..154858067-chr1:154858764..154862484,5	K562	blood:
6	chr1:154850801..154853684-chr1:154854424..154857585,3	K562	blood:
7	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
8	chr1:154856597..154859301-chr1:154909148..154910847,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160714	chromatin interactions
ENSG00000163344	chromatin interactions
ENSG00000270361	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543337813	chr1:154854590-154854591	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561881918	chr1:154854646-154854647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529074833	chr1:154854648-154854649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370817166	chr1:154854655-154854656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4600043	chr1:154854665-154854666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547917740	chr1:154854756-154854757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566216017	chr1:154854761-154854762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550779774	chr1:154854841-154854842	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533248530	chr1:154854907-154854908	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551801301	chr1:154854908-154854909	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184399709	chr1:154855002-154855003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537759913	chr1:154855013-154855014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190496454	chr1:154855038-154855039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529660348	chr1:154855039-154855040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1630500	chr1:154855055-154855056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
16	rs567922658	chr1:154855068-154855069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139724447	chr1:154855143-154855144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527283752	chr1:154855164-154855165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539750707	chr1:154855167-154855168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182383392	chr1:154855169-154855170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571835505	chr1:154855182-154855183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539155169	chr1:154855212-154855213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186026273	chr1:154855235-154855236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190340107	chr1:154855303-154855304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146145505	chr1:154855311-154855312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111377354	chr1:154855444-154855445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547149752	chr1:154855451-154855452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531215332	chr1:154855479-154855480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35526096	chr1:154855513-154855514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372750606	chr1:154855518-154855519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140005379	chr1:154855567-154855568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149656626	chr1:154855577-154855578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570543768	chr1:154855578-154855579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539234664	chr1:154855581-154855582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558017437	chr1:154855627-154855628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181217178	chr1:154855668-154855669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574953730	chr1:154855674-154855675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559588210	chr1:154855692-154855693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs57834000	chr1:154855712-154855713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185358412	chr1:154855760-154855761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189782100	chr1:154855791-154855792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566376708	chr1:154855793-154855794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182715666	chr1:154855800-154855801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs60537431	chr1:154855912-154855913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12025497	chr1:154855992-154855993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186008272	chr1:154856058-154856059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12025500	chr1:154856061-154856062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145464399	chr1:154856068-154856069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571861605	chr1:154856074-154856075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192132157	chr1:154856080-154856081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154850400-154857800	Weak transcription	Lung	lung
2	chr1:154851000-154857800	Weak transcription	Ovary	ovary
3	chr1:154851200-154856400	Weak transcription	Pancreas	Pancrea
4	chr1:154851800-154854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:154852800-154856400	Weak transcription	Spleen	Spleen
6	chr1:154853000-154854600	Enhancers	Brain Germinal Matrix	brain
7	chr1:154853000-154855200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:154853800-154854600	Bivalent Enhancer	HSMMtube	muscle
9	chr1:154853800-154855000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:154853800-154856400	Weak transcription	Fetal Stomach	stomach
11	chr1:154854000-154854600	Enhancers	HMEC	breast
12	chr1:154854000-154854800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154854000-154854800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:154854200-154854600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr1:154854200-154854600	Enhancers	Right Atrium	heart
16	chr1:154854200-154854800	Enhancers	Fetal Heart	heart
17	chr1:154854200-154855800	Weak transcription	K562	blood
18	chr1:154854400-154854600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:154854400-154854600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:154854400-154854800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:154854400-154854800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:154854400-154854800	Enhancers	NHDF-Ad	bronchial
23	chr1:154854600-154854800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:154854600-154855000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:154854600-154859000	Weak transcription	Right Atrium	heart
26	chr1:154854800-154859000	Weak transcription	Fetal Heart	heart
27	chr1:154854800-154859200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:154854800-154859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:154855000-154859400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:154855400-154858200	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:154855800-154858000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:154855800-154859800	Enhancers	K562	blood
33	chr1:154856200-154859400	Enhancers	Fetal Lung	lung
34	chr1:154856400-154856600	Enhancers	Left Ventricle	heart
35	chr1:154856400-154856600	Enhancers	Stomach Mucosa	stomach
36	chr1:154856400-154856600	Enhancers	Spleen	Spleen
37	chr1:154856400-154857000	Enhancers	Adipose Nuclei	Adipose
38	chr1:154856400-154857000	Enhancers	HepG2	liver
39	chr1:154856400-154857200	Enhancers	Pancreas	Pancrea
40	chr1:154856400-154857200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:154856400-154857400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:154856400-154858000	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:154856400-154858200	Enhancers	Fetal Stomach	stomach
44	chr1:154856400-154858400	Enhancers	HUVEC	blood vessel
45	chr1:154856400-154861800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:154856600-154859000	Weak transcription	Left Ventricle	heart
47	chr1:154856600-154859000	Weak transcription	Spleen	Spleen

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