Variant report

Variant	nsv526980
Chromosome Location	chr1:242836169-242842300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 278 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12691546	chr1:242836169-242836170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572517587	chr1:242836291-242836292	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139129995	chr1:242836385-242836386	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190541399	chr1:242836388-242836389	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538312892	chr1:242836399-242836400	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532447019	chr1:242836412-242836413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183460918	chr1:242836460-242836461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4658845	chr1:242836468-242836469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187731633	chr1:242836479-242836480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60838403	chr1:242836482-242836483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77539433	chr1:242836496-242836497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566182820	chr1:242836497-242836498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527456998	chr1:242836498-242836499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547576144	chr1:242836529-242836530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570654778	chr1:242836530-242836531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539386860	chr1:242836537-242836538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555721637	chr1:242836539-242836540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138880436	chr1:242836593-242836594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535100825	chr1:242836600-242836601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555009352	chr1:242836601-242836602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572115383	chr1:242836642-242836643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375453070	chr1:242836643-242836644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541219818	chr1:242836671-242836672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192721998	chr1:242836723-242836724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578175953	chr1:242836724-242836725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143842389	chr1:242836748-242836749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11591075	chr1:242836776-242836777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529270872	chr1:242836785-242836786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548399085	chr1:242836812-242836813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566679087	chr1:242836913-242836914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543055814	chr1:242836915-242836916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559542656	chr1:242836920-242836921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150190420	chr1:242836931-242836932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138851169	chr1:242837005-242837006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570657258	chr1:242837028-242837029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527990195	chr1:242837036-242837037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533032796	chr1:242837043-242837044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114775326	chr1:242837059-242837060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144802850	chr1:242837076-242837077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535042608	chr1:242837189-242837190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182770805	chr1:242837192-242837193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76474459	chr1:242837196-242837197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534755770	chr1:242837208-242837209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558046857	chr1:242837211-242837212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150972995	chr1:242837221-242837222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78892870	chr1:242837269-242837270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537471525	chr1:242837319-242837320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187841811	chr1:242837321-242837322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373052777	chr1:242837374-242837375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557648840	chr1:242837384-242837385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	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
Chronic lymphocytic leukemia	21546498	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
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242835000-242836200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:242836000-242836200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr1:242836000-242836400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:242836000-242836600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:242836000-242837000	Enhancers	Brain Substantia Nigra	brain
6	chr1:242836200-242836400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:242836200-242836400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:242836200-242836600	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:242836200-242837000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:242836200-242837000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:242836200-242837000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:242836200-242837000	Enhancers	Brain Angular Gyrus	brain
13	chr1:242836200-242837200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:242836400-242836600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:242836400-242837000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:242836400-242838200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:242836600-242837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:242836600-242838600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:242837000-242837200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:242837000-242838000	Weak transcription	Brain Substantia Nigra	brain
21	chr1:242837200-242838400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:242837200-242838800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:242838000-242838800	Enhancers	Brain Substantia Nigra	brain
24	chr1:242838200-242854000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:242838400-242838600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:242838600-242838800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:242838600-242838800	Enhancers	Brain Hippocampus Middle	brain
28	chr1:242838600-242839000	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:242838800-242839000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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