Variant report

Variant	esv3405583
Chromosome Location	chr1:226329178-226330038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226329613..226331188-chr1:226334644..226336349,2	K562	blood:
2	chr1:226321369..226323954-chr1:226327416..226330476,3	K562	blood:
3	chr1:226250043..226252644-chr1:226328864..226330456,2	K562	blood:

Variant related genes	Relation type
ENSG00000234478	chromatin interactions
ENSG00000163041	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201366693	chr1:226329182-226329183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551067601	chr1:226329183-226329184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369988188	chr1:226329184-226329185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201545951	chr1:226329186-226329187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199542873	chr1:226329187-226329188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374087791	chr1:226329188-226329189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397862820	chr1:226329191-226329192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10652945	chr1:226329194-226329195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191311684	chr1:226329213-226329214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138662151	chr1:226329235-226329236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535960099	chr1:226329376-226329377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557389245	chr1:226329387-226329388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142751272	chr1:226329414-226329415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12087091	chr1:226329417-226329418	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs557852672	chr1:226329457-226329458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12743825	chr1:226329469-226329470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12758364	chr1:226329471-226329472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573243539	chr1:226329486-226329487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373898607	chr1:226329502-226329503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540522188	chr1:226329506-226329507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561525526	chr1:226329518-226329519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183062910	chr1:226329521-226329522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375976149	chr1:226329575-226329576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530194833	chr1:226329651-226329652	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186614864	chr1:226329657-226329658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs3008188	chr1:226329676-226329677	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs139017295	chr1:226329688-226329689	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532869665	chr1:226329697-226329698	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs191607065	chr1:226329712-226329713	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9662958	chr1:226329728-226329729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs139228506	chr1:226329729-226329730	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548087316	chr1:226329730-226329731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs527585261	chr1:226329734-226329735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549254672	chr1:226329784-226329785	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs534444876	chr1:226329785-226329786	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184884220	chr1:226329788-226329789	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145060387	chr1:226329842-226329843	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565882730	chr1:226329848-226329849	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs556064261	chr1:226329938-226329939	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs148668364	chr1:226329944-226329945	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188033964	chr1:226329955-226329956	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192864546	chr1:226330008-226330009	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226317200-226331200	Weak transcription	Placenta	Placenta
4	chr1:226318600-226331600	Weak transcription	NH-A	brain
5	chr1:226319600-226331200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:226320800-226334000	Weak transcription	K562	blood
7	chr1:226321000-226331000	Weak transcription	HSMM	muscle
8	chr1:226321200-226331800	Weak transcription	HSMMtube	muscle
9	chr1:226321400-226331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:226321400-226331600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:226321400-226331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:226321400-226333800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:226321400-226333800	Weak transcription	GM12878-XiMat	blood
14	chr1:226321800-226331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:226322000-226331600	Weak transcription	Primary B cells from cord blood	blood
16	chr1:226322000-226334400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:226322200-226331600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:226322200-226331800	Weak transcription	HMEC	breast
19	chr1:226322800-226333000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:226323200-226330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:226323200-226331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:226323200-226331800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:226323200-226331800	Weak transcription	Spleen	Spleen
24	chr1:226323200-226333200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:226323200-226333600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:226323200-226333800	Weak transcription	A549	lung
27	chr1:226323200-226334400	Weak transcription	NHEK	skin
28	chr1:226323200-226344600	Weak transcription	Brain Angular Gyrus	brain
29	chr1:226323400-226329600	Weak transcription	Right Atrium	heart
30	chr1:226323400-226331000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:226323400-226331000	Weak transcription	Adipose Nuclei	Adipose
32	chr1:226323400-226331600	Weak transcription	Fetal Thymus	thymus
33	chr1:226323400-226331600	Weak transcription	Osteobl	bone
34	chr1:226323400-226331800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:226323400-226331800	Weak transcription	Left Ventricle	heart
36	chr1:226323400-226338400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:226323600-226330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:226323600-226331000	Weak transcription	Fetal Brain Female	brain
39	chr1:226323600-226331200	Weak transcription	Fetal Intestine Small	intestine
40	chr1:226323600-226331200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:226323600-226331600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:226323600-226331600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:226323600-226331800	Weak transcription	Liver	Liver
44	chr1:226323600-226333800	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:226323600-226333800	Weak transcription	Esophagus	oesophagus
46	chr1:226323600-226334000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:226323600-226338400	Weak transcription	Fetal Kidney	kidney
48	chr1:226323600-226339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:226323600-226339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:226323600-226346000	Weak transcription	Fetal Heart	heart

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