Variant report

Variant	esv3441788
Chromosome Location	chr1:246057018-246057351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246057307..246059352-chr1:246513090..246515764,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576847739	chr1:246057031-246057032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9728343	chr1:246057046-246057047	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556235433	chr1:246057055-246057056	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200249166	chr1:246057061-246057062	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56768582	chr1:246057062-246057063	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386370331	chr1:246057075-246057076	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112970369	chr1:246057076-246057077	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397813518	chr1:246057077-246057078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79549778	chr1:246057078-246057079	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74499592	chr1:246057081-246057082	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141280259	chr1:246057096-246057097	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575704917	chr1:246057149-246057150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544868836	chr1:246057160-246057161	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568718112	chr1:246057188-246057189	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530452365	chr1:246057191-246057192	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536583670	chr1:246057198-246057199	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540610715	chr1:246057201-246057202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs1890823	chr1:246057204-246057205	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77042882	chr1:246057220-246057221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552348976	chr1:246057234-246057235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569337018	chr1:246057242-246057243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531398265	chr1:246057252-246057253	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1890822	chr1:246057255-246057256	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567996905	chr1:246057273-246057274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533860945	chr1:246057281-246057282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186750381	chr1:246057284-246057285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557429208	chr1:246057301-246057302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115968610	chr1:246057304-246057305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539424453	chr1:246057305-246057306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246019200-246067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:246036800-246057800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:246038800-246068200	Weak transcription	Gastric	stomach
4	chr1:246039200-246080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:246040600-246057800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:246045200-246095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:246045800-246058200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:246047800-246057600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:246051200-246057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:246055000-246057600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:246055400-246077600	Weak transcription	Primary B cells from cord blood	blood
12	chr1:246055800-246057600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:246056600-246089200	Weak transcription	Ovary	ovary
14	chr1:246056800-246058400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr1:246056800-246059200	ZNF genes & repeats	K562	blood
16	chr1:246057000-246057200	Strong transcription	Osteobl	bone
17	chr1:246057000-246059200	Weak transcription	Thymus	Thymus
18	chr1:246057000-246059600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:246057200-246057400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:246057200-246057800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links