Variant report

Variant	esv2568232
Chromosome Location	chr1:179822418-179823700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179783903..179786438-chr1:179821262..179823436,2	K562	blood:
2	chr1:179823135..179825609-chr1:179923086..179924823,2	K562	blood:
3	chr1:179821213..179823373-chr1:179831118..179833958,2	K562	blood:
4	chr1:179823204..179826152-chr1:179845562..179847449,3	K562	blood:

Variant related genes	Relation type
ENSG00000260360	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000169905	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560609391	chr1:179822418-179822419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181429004	chr1:179822424-179822425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549261636	chr1:179822425-179822426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569114630	chr1:179822467-179822468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538086600	chr1:179822468-179822469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115605349	chr1:179822490-179822491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186588594	chr1:179822562-179822563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575319197	chr1:179822565-179822566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150136114	chr1:179822626-179822627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571434938	chr1:179822679-179822680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188745214	chr1:179822703-179822704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143577407	chr1:179822752-179822753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181599530	chr1:179822795-179822796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527654093	chr1:179822871-179822872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58392320	chr1:179822928-179822929	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536551157	chr1:179822937-179822938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373426998	chr1:179823020-179823021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528325258	chr1:179823029-179823030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377050841	chr1:179823112-179823113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1148814	chr1:179823114-179823115	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576295127	chr1:179823158-179823159	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148481217	chr1:179823176-179823177	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1148813	chr1:179823230-179823231	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572141829	chr1:179823232-179823233	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs543135273	chr1:179823259-179823260	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs142645737	chr1:179823267-179823268	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs368073962	chr1:179823274-179823275	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs529519884	chr1:179823355-179823356	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs186133460	chr1:179823369-179823370	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556274499	chr1:179823373-179823374	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs542901329	chr1:179823456-179823457	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs147669918	chr1:179823483-179823484	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531766731	chr1:179823568-179823569	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs551592869	chr1:179823578-179823579	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370508673	chr1:179823581-179823582	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs571615283	chr1:179823598-179823599	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs547429569	chr1:179823622-179823623	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs529234497	chr1:179823631-179823632	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs140678884	chr1:179823633-179823634	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Bladder cancer	19088036	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
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
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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179795600-179834200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:179802400-179836200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:179803600-179833600	Weak transcription	Fetal Brain Male	brain
4	chr1:179807600-179827400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:179807800-179833800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:179808600-179822600	Strong transcription	Fetal Intestine Large	intestine
7	chr1:179808600-179837000	Strong transcription	Liver	Liver
8	chr1:179808600-179839800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:179808800-179836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:179809800-179827800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:179810200-179828000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:179812200-179827800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:179812600-179842600	Weak transcription	Stomach Mucosa	stomach
14	chr1:179812800-179822600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:179813000-179822600	Strong transcription	Placenta	Placenta
16	chr1:179813200-179822600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:179813200-179823000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:179813200-179823400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:179813200-179839200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:179813400-179825400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:179813400-179834000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:179814200-179823600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:179814200-179834400	Weak transcription	Fetal Heart	heart
24	chr1:179814400-179839200	Strong transcription	HSMM	muscle
25	chr1:179815000-179822800	Strong transcription	NHEK	skin
26	chr1:179815000-179828400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:179815000-179839400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:179815200-179822600	Strong transcription	Primary B cells from cord blood	blood
29	chr1:179815200-179822600	Strong transcription	NHDF-Ad	bronchial
30	chr1:179816000-179836000	Weak transcription	Colonic Mucosa	Colon
31	chr1:179816800-179826400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:179820200-179825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:179820200-179825400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:179820200-179825600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:179820200-179825800	Weak transcription	Lung	lung
36	chr1:179820200-179826200	Weak transcription	NHLF	lung
37	chr1:179820200-179829600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:179820200-179831600	Weak transcription	Esophagus	oesophagus
39	chr1:179820200-179834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:179820400-179824600	Weak transcription	Fetal Lung	lung
41	chr1:179820400-179825000	Weak transcription	Aorta	Aorta
42	chr1:179820400-179825000	Weak transcription	Brain Germinal Matrix	brain
43	chr1:179820400-179825400	Weak transcription	Fetal Brain Female	brain
44	chr1:179820400-179825600	Weak transcription	Ovary	ovary
45	chr1:179820400-179825600	Weak transcription	Pancreas	Pancrea
46	chr1:179820400-179825600	Weak transcription	Spleen	Spleen
47	chr1:179820400-179825600	Weak transcription	HMEC	breast
48	chr1:179820400-179825800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:179820400-179825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:179820400-179825800	Weak transcription	Gastric	stomach

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