Variant report

Variant	esv3362405
Chromosome Location	chr1:220199279-220202577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220200296..220204576-chr1:220219461..220222727,3	K562	blood:
2	chr1:220191199..220193834-chr1:220197562..220200114,2	K562	blood:
3	chr1:220163102..220165191-chr1:220201695..220204471,2	K562	blood:
4	chr1:220198252..220200189-chr1:220204982..220206725,3	K562	blood:
5	chr1:220183779..220186037-chr1:220201298..220203530,2	K562	blood:

Variant related genes	Relation type
ENSG00000136628	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180896920	chr1:220199285-220199286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185203514	chr1:220199301-220199302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35995726	chr1:220199360-220199361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10746396	chr1:220199370-220199371	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12080935	chr1:220199371-220199372	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533187558	chr1:220199415-220199416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61830401	chr1:220199424-220199425	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559004064	chr1:220199450-220199451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563265181	chr1:220199507-220199508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190017830	chr1:220199520-220199521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555280910	chr1:220199529-220199530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77420260	chr1:220199549-220199550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76542034	chr1:220199563-220199564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183219912	chr1:220199596-220199597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61830402	chr1:220199603-220199604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534938425	chr1:220199673-220199674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558113084	chr1:220199708-220199709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188627060	chr1:220199718-220199719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191621552	chr1:220199768-220199769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542544688	chr1:220199791-220199792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573660615	chr1:220199807-220199808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2647458	chr1:220199852-220199853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200589124	chr1:220199853-220199854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562163262	chr1:220199862-220199863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544380389	chr1:220199880-220199881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572331106	chr1:220199881-220199882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12081205	chr1:220199934-220199935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564479231	chr1:220200010-220200011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2789815	chr1:220200021-220200022	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183868680	chr1:220200054-220200055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563659530	chr1:220200084-220200085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529383883	chr1:220200117-220200118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148667987	chr1:220200119-220200120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566020280	chr1:220200132-220200133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142213467	chr1:220200149-220200150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534849936	chr1:220200183-220200184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571320174	chr1:220200223-220200224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551595075	chr1:220200225-220200226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571617015	chr1:220200355-220200356	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12141971	chr1:220200362-220200363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556694305	chr1:220200373-220200374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573549101	chr1:220200399-220200400	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535848116	chr1:220200405-220200406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6681055	chr1:220200426-220200427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572593251	chr1:220200452-220200453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568847807	chr1:220200460-220200461	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12142009	chr1:220200489-220200490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577926397	chr1:220200492-220200493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544060034	chr1:220200495-220200496	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563555566	chr1:220200527-220200528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:220166400-220199800	Strong transcription	K562	blood
7	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
14	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:220176600-220200200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
23	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
24	chr1:220185800-220200200	Strong transcription	Fetal Thymus	thymus
25	chr1:220186200-220200200	Strong transcription	HSMM	muscle
26	chr1:220186600-220200000	Strong transcription	Adipose Nuclei	Adipose
27	chr1:220186600-220207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:220186800-220199800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:220186800-220200200	Strong transcription	Placenta	Placenta
30	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
31	chr1:220187400-220200400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:220188200-220200000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:220189200-220208000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:220189600-220208400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:220190800-220200000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:220190800-220200600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:220190800-220208400	Strong transcription	Liver	Liver
39	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:220192400-220200200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:220192600-220200200	Strong transcription	HepG2	liver
42	chr1:220192600-220206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:220193600-220202400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:220194200-220203600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:220194400-220200200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:220194800-220206800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
50	chr1:220194800-220212200	Weak transcription	Aorta	Aorta

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