Variant report

Variant	nsv945303
Chromosome Location	chr1:220870489-220871170
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	chr1:220869909..220871487-chr1:220872006..220873594,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544301713	chr1:220870495-220870496	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143715831	chr1:220870508-220870509	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370159352	chr1:220870529-220870530	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371084727	chr1:220870531-220870532	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569530010	chr1:220870543-220870544	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73092762	chr1:220870579-220870580	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532212155	chr1:220870582-220870583	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552211099	chr1:220870595-220870596	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147251098	chr1:220870600-220870601	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531311159	chr1:220870608-220870609	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547908571	chr1:220870629-220870630	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567607062	chr1:220870649-220870650	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536593915	chr1:220870716-220870717	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114891890	chr1:220870728-220870729	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113891662	chr1:220870730-220870731	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538873572	chr1:220870741-220870742	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558981035	chr1:220870763-220870764	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188550519	chr1:220870765-220870766	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544578812	chr1:220870840-220870841	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57487362	chr1:220870873-220870874	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559921321	chr1:220870879-220870880	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531945023	chr1:220870908-220870909	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116041055	chr1:220870913-220870914	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141472851	chr1:220871038-220871039	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs337154	chr1:220871123-220871124	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs545704504	chr1:220871152-220871153	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562586184	chr1:220871166-220871167	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220865200-220873200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:220865200-220874200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:220865200-220879200	Weak transcription	Ovary	ovary
4	chr1:220865400-220870800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:220865400-220873200	Weak transcription	Fetal Brain Female	brain
6	chr1:220865400-220873800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:220865400-220874400	Weak transcription	Colonic Mucosa	Colon
8	chr1:220865400-220876200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:220865600-220870800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:220866000-220872400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:220866000-220873400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:220866000-220873600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:220866600-220872400	Weak transcription	Fetal Brain Male	brain
14	chr1:220866600-220879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:220867200-220870600	Weak transcription	Fetal Lung	lung
16	chr1:220868400-220873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:220868400-220873600	Strong transcription	Fetal Intestine Small	intestine
18	chr1:220869800-220870600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:220869800-220870800	Strong transcription	Fetal Intestine Large	intestine
20	chr1:220869800-220871600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:220869800-220872000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:220869800-220872000	Genic enhancers	Placenta	Placenta
23	chr1:220869800-220872600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:220870000-220870600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:220870000-220870600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:220870000-220871000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:220870000-220871400	Strong transcription	Aorta	Aorta
28	chr1:220870000-220871600	Strong transcription	Left Ventricle	heart
29	chr1:220870000-220871600	Strong transcription	Pancreas	Pancrea
30	chr1:220870000-220871800	Strong transcription	Adipose Nuclei	Adipose
31	chr1:220870000-220872000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:220870000-220872600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:220870000-220872800	Genic enhancers	Liver	Liver
34	chr1:220870000-220873600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:220870200-220870600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:220870200-220871000	Strong transcription	HepG2	liver
37	chr1:220870200-220871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:220870200-220871400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:220870200-220871600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:220870200-220871600	Strong transcription	Gastric	stomach
41	chr1:220870200-220871600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:220870200-220871800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:220870200-220871800	Strong transcription	Spleen	Spleen
44	chr1:220870200-220872000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:220870400-220872000	Strong transcription	Lung	lung
46	chr1:220870400-220872000	Strong transcription	Right Ventricle	heart
47	chr1:220870400-220873600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:220870600-220871800	Strong transcription	Fetal Lung	lung
49	chr1:220870600-220873000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:220870600-220873400	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links