Variant report

Variant	nsv872793
Chromosome Location	chr1:190934383-191106026
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:23)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190949975..190952260-chr1:190953522..190955676,2	K562	blood:
2	chr1:191078284..191080144-chr1:191088639..191091448,2	K562	blood:
3	chr1:190949975..190952260-chr1:190953522..190955676,2	K562	blood:
4	chr1:191102072..191104300-chr1:191107376..191108877,2	K562	blood:
5	chr1:190907314..190910311-chr1:190988688..190990783,2	K562	blood:
6	chr1:190987156..190989063-chr1:190989667..190991830,2	K562	blood:
7	chr1:191010882..191013695-chr1:191014255..191017163,2	K562	blood:
8	chr1:191056730..191058944-chr1:191065674..191068306,2	K562	blood:
9	chr1:191013676..191015855-chr1:191017030..191019137,2	K562	blood:
10	chr1:191078284..191080144-chr1:191088639..191091448,2	K562	blood:
11	chr1:191015853..191018214-chr1:191018760..191021606,2	MCF-7	breast:
12	chr1:191010882..191013695-chr1:191014255..191017163,2	K562	blood:
13	chr1:191088572..191091264-chr1:191094632..191096483,2	MCF-7	breast:
14	chr1:191071401..191072988-chr1:191075213..191077807,2	MCF-7	breast:
15	chr1:191015853..191018214-chr1:191018760..191021606,2	MCF-7	breast:
16	chr1:191013676..191015855-chr1:191017030..191019137,2	K562	blood:
17	chr1:191088572..191091264-chr1:191094632..191096483,2	MCF-7	breast:
18	chr1:190978633..190980595-chr1:190983607..190985514,2	K562	blood:
19	chr1:190987156..190989063-chr1:190989667..190991830,2	K562	blood:
20	chr1:191006072..191007919-chr7:61967833..61970042,2	MCF-7	breast:
21	chr1:191071401..191072988-chr1:191075213..191077807,2	MCF-7	breast:
22	chr1:191056730..191058944-chr1:191065674..191068306,2	K562	blood:
23	chr1:190978633..190980595-chr1:190983607..190985514,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-7	chr1:190945550-190945655	NONHSAT008513
2	lnc-FAM5C-7	chr1:190946299-190946427	NONHSAT008513
3	lnc-FAM5C-8	chr1:191000528-191000708	l_159_chr1:191000527-191001930_76bGuttman_hLF
4	lnc-FAM5C-8	chr1:191001792-191001930	l_159_chr1:191000527-191001930_76bGuttman_hLF

No data

Extended variants
information (count: 674 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1431142	chr1:190934383-190934384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548390289	chr1:190934463-190934464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532725364	chr1:190934473-190934474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114394483	chr1:190934484-190934485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146328422	chr1:190934486-190934487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193132447	chr1:190934494-190934495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185703804	chr1:190934544-190934545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570732260	chr1:190934604-190934605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539722124	chr1:190934613-190934614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146445122	chr1:190934651-190934652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374983430	chr1:190934652-190934653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547927844	chr1:190934655-190934656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201821476	chr1:190934672-190934673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368080051	chr1:190934675-190934676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200460477	chr1:190934676-190934677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74132138	chr1:190934679-190934680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs68150836	chr1:190934689-190934690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371969806	chr1:190934690-190934691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199615134	chr1:190934691-190934692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386637961	chr1:190934692-190934693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368489511	chr1:190934694-190934695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199782524	chr1:190934697-190934698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558194368	chr1:190934712-190934713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541853649	chr1:190934714-190934715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12089478	chr1:190934729-190934730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555068304	chr1:190934771-190934772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76384748	chr1:190934807-190934808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554663192	chr1:190934830-190934831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540793013	chr1:190934840-190934841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117906821	chr1:190934858-190934859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544006816	chr1:190934888-190934889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543732613	chr1:190934889-190934890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563621593	chr1:190934917-190934918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529208226	chr1:190934923-190934924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10920850	chr1:190934928-190934929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568378466	chr1:190934931-190934932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527757055	chr1:190934947-190934948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545354071	chr1:190934978-190934979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115628650	chr1:190934992-190934993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116165491	chr1:190934999-190935000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539683433	chr1:190935035-190935036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140981691	chr1:190935084-190935085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556432185	chr1:190935086-190935087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112417402	chr1:190935104-190935105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374187541	chr1:190935133-190935134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189159575	chr1:190935196-190935197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191291818	chr1:190935211-190935212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1431143	chr1:190935277-190935278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs12135201	chr1:190935332-190935333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371437101	chr1:190935371-190935372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190931200-190935400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:190935400-190935800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:190935400-190935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:190935400-190935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:190949000-190951600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:190956000-190956200	Enhancers	Pancreas	Pancrea
7	chr1:190990400-190993200	Enhancers	HUVEC	blood vessel
8	chr1:190991600-190992800	Enhancers	NH-A	brain
9	chr1:190991800-190992200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:190992200-190995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:190995200-190995600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:190995200-190995600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:191034400-191035200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:191034600-191035200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:191043600-191044800	Enhancers	Dnd41	blood
16	chr1:191044800-191045800	Weak transcription	Dnd41	blood
17	chr1:191046000-191046200	Enhancers	Dnd41	blood
18	chr1:191095200-191095600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:191095200-191096000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:191096200-191096400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:191103400-191104000	Enhancers	HUVEC	blood vessel
22	chr1:191103800-191104000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:191103800-191104400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:191103800-191104400	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:191104000-191104400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:191104000-191104400	Flanking Active TSS	HUVEC	blood vessel
27	chr1:191104200-191104600	Enhancers	Colon Smooth Muscle	Colon
28	chr1:191104400-191105000	Enhancers	HUVEC	blood vessel

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