Variant report

Variant	esv3452507
Chromosome Location	chr1:154205867-154206522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154204829..154207734-chr1:154224823..154226987,2	K562	blood:
2	chr1:154204937..154206983-chr1:154214019..154215783,2	K562	blood:
3	chr1:154198138..154200536-chr1:154206178..154207762,2	MCF-7	breast:
4	chr1:154201393..154203526-chr1:154206473..154209093,2	MCF-7	breast:
5	chr1:154204816..154206880-chr1:154215468..154217212,2	MCF-7	breast:
6	chr1:154206043..154208545-chr1:154210918..154213317,2	K562	blood:

Variant related genes	Relation type
ENSG00000143569	chromatin interactions
ENSG00000252817	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572276265	chr1:154205876-154205877	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551107113	chr1:154205880-154205881	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545567445	chr1:154205944-154205945	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185285082	chr1:154205948-154205949	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558149019	chr1:154206006-154206007	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs151150431	chr1:154206013-154206014	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543859563	chr1:154206016-154206017	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531484144	chr1:154206020-154206021	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542052427	chr1:154206062-154206063	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562642896	chr1:154206064-154206065	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574589953	chr1:154206089-154206090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142624806	chr1:154206127-154206128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs386368348	chr1:154206135-154206136	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148237884	chr1:154206137-154206138	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115931169	chr1:154206153-154206154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs61695071	chr1:154206154-154206155	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374583061	chr1:154206184-154206185	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10797061	chr1:154206212-154206213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs547698306	chr1:154206249-154206250	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191219976	chr1:154206263-154206264	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183789340	chr1:154206303-154206304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570739530	chr1:154206324-154206325	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12027999	chr1:154206358-154206359	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374277053	chr1:154206393-154206394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs140192787	chr1:154206492-154206493	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531772988	chr1:154206496-154206497	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371220636	chr1:154206516-154206517	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Ewing''s sarcoma	21437220	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
Splenic marginal zone lymphoma	21957467	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
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
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154195200-154211400	Weak transcription	Right Atrium	heart
2	chr1:154195400-154234600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:154195600-154244000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154196200-154243800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:154196400-154218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:154196400-154243800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:154196600-154237600	Strong transcription	Fetal Thymus	thymus
8	chr1:154196600-154243600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:154196800-154211800	Strong transcription	NHEK	skin
10	chr1:154196800-154224200	Strong transcription	K562	blood
11	chr1:154196800-154224400	Strong transcription	Primary B cells from cord blood	blood
12	chr1:154196800-154235800	Strong transcription	HUVEC	blood vessel
13	chr1:154196800-154242600	Strong transcription	A549	lung
14	chr1:154197000-154235000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:154197000-154242800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:154197000-154243200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:154197000-154243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:154197000-154243800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:154197000-154243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:154197200-154210800	Strong transcription	HMEC	breast
21	chr1:154197200-154214200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:154197200-154243600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:154197200-154244000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:154197400-154212200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr1:154197400-154224200	Strong transcription	Hela-S3	cervix
26	chr1:154197400-154242800	Strong transcription	Brain Anterior Caudate	brain
27	chr1:154197600-154208800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:154197600-154209600	Strong transcription	Fetal Intestine Small	intestine
29	chr1:154197600-154210600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:154197600-154211200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:154197600-154211200	Strong transcription	Lung	lung
32	chr1:154197600-154212800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:154197600-154213200	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr1:154197600-154214000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:154197600-154214600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:154197600-154218600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:154197600-154218800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:154197600-154226400	Strong transcription	Osteobl	bone
39	chr1:154197600-154236000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:154197600-154236200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:154197600-154236800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:154197600-154239200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:154197600-154239200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:154197600-154239400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:154197600-154239800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:154197600-154239800	Strong transcription	NHLF	lung
47	chr1:154197600-154242000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:154197600-154243000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:154197600-154243600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:154197600-154243600	Strong transcription	Muscle Satellite Cultured Cells	--

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