Variant report

Variant	esv3344390
Chromosome Location	chr1:220215339-220215836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220215698..220221065-chr1:220265352..220268996,5	K562	blood:
2	chr1:220214211..220216766-chr1:220216909..220219452,2	MCF-7	breast:
3	chr1:220215698..220219502-chr1:220266015..220268343,4	K562	blood:
4	chr1:220215559..220218002-chr1:220218306..220221270,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136628	chromatin interactions
ENSG00000067704	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536613942	chr1:220215367-220215368	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372920881	chr1:220215378-220215379	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553199538	chr1:220215379-220215380	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187091417	chr1:220215384-220215385	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10863527	chr1:220215401-220215402	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558702478	chr1:220215454-220215455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10863528	chr1:220215455-220215456	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544121540	chr1:220215472-220215473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190366461	chr1:220215489-220215490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12238988	chr1:220215524-220215525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6686451	chr1:220215549-220215550	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560038970	chr1:220215565-220215566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532223247	chr1:220215579-220215580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551719881	chr1:220215614-220215615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182842439	chr1:220215617-220215618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571845232	chr1:220215623-220215624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35420771	chr1:220215645-220215646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531095583	chr1:220215741-220215742	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376088947	chr1:220215744-220215745	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537767347	chr1:220215781-220215782	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567916782	chr1:220215810-220215811	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536253407	chr1:220215819-220215820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79621399	chr1:220215826-220215827	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113943713	chr1:220215829-220215830	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Pancreatic cancer	17952125	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
4	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
5	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
6	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
10	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:220205200-220216800	Weak transcription	Fetal Brain Male	brain
13	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220206600-220217000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:220206800-220218200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:220206800-220219000	Weak transcription	Fetal Lung	lung
17	chr1:220207600-220217000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:220207600-220218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:220208000-220216400	Weak transcription	NHDF-Ad	bronchial
20	chr1:220208200-220216800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:220208200-220218200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:220208400-220218200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:220208600-220218000	Weak transcription	HSMM	muscle
24	chr1:220208800-220218400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:220210600-220218600	Weak transcription	Right Atrium	heart
26	chr1:220211200-220215400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:220211600-220215800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:220211800-220215600	Strong transcription	Fetal Stomach	stomach
29	chr1:220211800-220215800	Strong transcription	Fetal Intestine Small	intestine
30	chr1:220212400-220217200	Weak transcription	Gastric	stomach
31	chr1:220212400-220218200	Weak transcription	Stomach Mucosa	stomach
32	chr1:220212600-220216800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:220212600-220216800	Strong transcription	K562	blood
34	chr1:220212800-220216800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:220212800-220217200	Weak transcription	Small Intestine	intestine
36	chr1:220212800-220218200	Weak transcription	HMEC	breast
37	chr1:220213400-220216200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:220213400-220216800	Weak transcription	Brain Angular Gyrus	brain
39	chr1:220213400-220216800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:220213400-220216800	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:220213400-220216800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:220213400-220216800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:220213400-220216800	Weak transcription	A549	lung
44	chr1:220213400-220217000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:220213400-220217000	Weak transcription	Brain Germinal Matrix	brain
46	chr1:220213400-220217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:220213400-220217600	Weak transcription	Lung	lung
48	chr1:220213400-220217800	Weak transcription	Aorta	Aorta
49	chr1:220213400-220218000	Weak transcription	Osteobl	bone
50	chr1:220213400-220218400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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