Variant report

Variant	nsv947359
Chromosome Location	chr1:192980236-192987689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:192973548..192977447-chr1:192979869..192983384,3	K562	blood:
2	chr1:192984947..192986543-chr1:193027186..193029315,2	K562	blood:
3	chr1:192775702..192778041-chr1:192986871..192988604,2	MCF-7	breast:
4	chr1:192957649..192960395-chr1:192982012..192983675,2	K562	blood:
5	chr1:192980684..192984723-chr1:192984841..192989093,4	K562	blood:
6	chr1:192976396..192978239-chr1:192979297..192981493,2	MCF-7	breast:
7	chr1:192979947..192982887-chr1:192983438..192986734,3	K562	blood:
8	chr1:192980684..192984723-chr1:192984841..192989093,4	K562	blood:
9	chr1:192981169..192983545-chr1:192999201..193001195,2	K562	blood:
10	chr1:192762496..192765465-chr1:192982382..192985012,2	K562	blood:
11	chr1:192979947..192982887-chr1:192983438..192986734,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116750	chromatin interactions
ENSG00000116747	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17702096	chr1:192980247-192980248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185118788	chr1:192980268-192980269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549724752	chr1:192980311-192980312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563445150	chr1:192980313-192980314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188262717	chr1:192980325-192980326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548806558	chr1:192980338-192980339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550595338	chr1:192980374-192980375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534948089	chr1:192980482-192980483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72738588	chr1:192980484-192980485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571486447	chr1:192980512-192980513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536643167	chr1:192980591-192980592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376425925	chr1:192980668-192980669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144306756	chr1:192980704-192980705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573818593	chr1:192980741-192980742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536337756	chr1:192980906-192980907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532826266	chr1:192980915-192980916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572572967	chr1:192980924-192980925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537947005	chr1:192980965-192980966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541578609	chr1:192980990-192980991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564635599	chr1:192980993-192980994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578162837	chr1:192981096-192981097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551066036	chr1:192981100-192981101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145191489	chr1:192981137-192981138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563333912	chr1:192981156-192981157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553695706	chr1:192981182-192981183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77636492	chr1:192981195-192981196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78897771	chr1:192981197-192981198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529384252	chr1:192981204-192981205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558173721	chr1:192981231-192981232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559771583	chr1:192981237-192981238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528292992	chr1:192981268-192981269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551505392	chr1:192981314-192981315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181007504	chr1:192981337-192981338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148723927	chr1:192981366-192981367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186387623	chr1:192981400-192981401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567249167	chr1:192981428-192981429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56199152	chr1:192981433-192981434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191145462	chr1:192981539-192981540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577944036	chr1:192981557-192981558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183551765	chr1:192981575-192981576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186810505	chr1:192981577-192981578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558327456	chr1:192981615-192981616	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114475654	chr1:192981655-192981656	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533755141	chr1:192981684-192981685	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191265564	chr1:192981707-192981708	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556966641	chr1:192981737-192981738	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34098573	chr1:192981805-192981806	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572168435	chr1:192981833-192981834	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1062999	chr1:192981862-192981863	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373981418	chr1:192981880-192981881	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
2	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
6	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:192963800-192981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:192963800-192981600	Weak transcription	NHLF	lung
11	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:192963800-192982200	Weak transcription	Aorta	Aorta
13	chr1:192963800-192983000	Weak transcription	NH-A	brain
14	chr1:192963800-192990000	Weak transcription	HMEC	breast
15	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
17	chr1:192963800-193012400	Weak transcription	NHEK	skin
18	chr1:192963800-193019600	Weak transcription	Ovary	ovary
19	chr1:192964000-192981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:192964000-192981800	Weak transcription	HSMM	muscle
21	chr1:192964000-192983000	Weak transcription	Fetal Thymus	thymus
22	chr1:192964000-192984600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
25	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
27	chr1:192966400-192985200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:192967200-192983600	Weak transcription	HUVEC	blood vessel
29	chr1:192967600-192982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:192968000-192981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:192968000-192984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:192968000-192992000	Weak transcription	Placenta	Placenta
34	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:192972400-192982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:192972800-192981800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:192972800-192983200	Weak transcription	K562	blood
40	chr1:192972800-192991200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:192972800-192991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:192973200-192992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:192975200-192981600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:192975200-192985000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:192975400-192982800	Weak transcription	Psoas Muscle	Psoas
46	chr1:192975400-192991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:192975600-192981600	Enhancers	Fetal Intestine Large	intestine
48	chr1:192977000-192982400	Enhancers	Fetal Intestine Small	intestine
49	chr1:192977200-192981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:192977400-192981800	Weak transcription	Colon Smooth Muscle	Colon

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