Variant report

Variant	nsv430080
Chromosome Location	chr1:196074775-196101014
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196082312..196084819-chr1:196086856..196089362,2	K562	blood:
2	chr1:196084793..196086463-chr1:196093018..196095488,2	K562	blood:
3	chr1:196082312..196084819-chr1:196086856..196089362,2	K562	blood:
4	chr1:196080775..196083436-chr1:196084849..196086558,2	K562	blood:
5	chr1:196094395..196096626-chr1:196097794..196100175,3	K562	blood:
6	chr1:196093766..196096415-chr1:196097794..196099859,3	K562	blood:
7	chr1:196094395..196096626-chr1:196097794..196100175,3	K562	blood:
8	chr1:196078954..196080550-chr1:196080702..196082561,2	K562	blood:
9	chr1:196080775..196083436-chr1:196084849..196086558,2	K562	blood:
10	chr1:196084793..196086463-chr1:196093018..196095488,2	K562	blood:
11	chr1:196093766..196096415-chr1:196097794..196099859,3	K562	blood:
12	chr1:196078954..196080550-chr1:196080702..196082561,2	K562	blood:

No data

Extended variants
information (count: 946 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4614237	chr1:196074775-196074776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7417237	chr1:196074825-196074826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376128054	chr1:196074867-196074868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192220036	chr1:196074890-196074891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369094559	chr1:196074919-196074920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183600358	chr1:196074944-196074945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554881691	chr1:196074945-196074946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542423236	chr1:196074948-196074949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186782175	chr1:196074976-196074977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531454821	chr1:196075003-196075004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549374885	chr1:196075020-196075021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564585468	chr1:196075079-196075080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372555453	chr1:196075098-196075099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12038314	chr1:196075114-196075115	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148330741	chr1:196075144-196075145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565605486	chr1:196075185-196075186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369089779	chr1:196075188-196075189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7354904	chr1:196075193-196075194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536874393	chr1:196075202-196075203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548448254	chr1:196075206-196075207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537272263	chr1:196075209-196075210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190286198	chr1:196075241-196075242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77082752	chr1:196075281-196075282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369913048	chr1:196075337-196075338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371950056	chr1:196075374-196075375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76277221	chr1:196075375-196075376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182556065	chr1:196075403-196075404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534691180	chr1:196075404-196075405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553447503	chr1:196075405-196075406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574808967	chr1:196075438-196075439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575415852	chr1:196075443-196075444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117586752	chr1:196075445-196075446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560708091	chr1:196075489-196075490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553843178	chr1:196075542-196075543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76235138	chr1:196075610-196075611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369964568	chr1:196075614-196075615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11585296	chr1:196075615-196075616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186886124	chr1:196075623-196075624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77476836	chr1:196075624-196075625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189968583	chr1:196075626-196075627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145657641	chr1:196075717-196075718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548260920	chr1:196075738-196075739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577060089	chr1:196075805-196075806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570306253	chr1:196075818-196075819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10922027	chr1:196075823-196075824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552936430	chr1:196075848-196075849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374141636	chr1:196075856-196075857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535039326	chr1:196075868-196075869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12031315	chr1:196075869-196075870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370520871	chr1:196075873-196075874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	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
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196074200-196078000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:196074800-196075400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:196074800-196075600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:196074800-196075600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:196075000-196075400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:196075000-196075600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:196075600-196078400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:196077600-196079000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:196077800-196078400	Enhancers	K562	blood
10	chr1:196078000-196079000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:196078000-196079000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:196078200-196079000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:196078400-196079000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:196083200-196083600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:196083200-196086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:196083400-196083600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:196083600-196084400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:196083600-196097800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:196084400-196085200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:196084400-196085200	Enhancers	Fetal Heart	heart
21	chr1:196084400-196085400	Enhancers	NHDF-Ad	bronchial
22	chr1:196084400-196085600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:196084600-196084800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:196084600-196085200	Enhancers	Brain Angular Gyrus	brain
25	chr1:196084600-196085200	Enhancers	Brain Anterior Caudate	brain
26	chr1:196084600-196085200	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:196084600-196085200	Enhancers	Brain Hippocampus Middle	brain
28	chr1:196084600-196085200	Enhancers	K562	blood
29	chr1:196084600-196085400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:196084800-196085000	Enhancers	Psoas Muscle	Psoas
31	chr1:196084800-196085200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:196084800-196085200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:196084800-196085200	Enhancers	Brain Substantia Nigra	brain
34	chr1:196084800-196085200	Enhancers	Colon Smooth Muscle	Colon
35	chr1:196084800-196085200	Enhancers	Pancreas	Pancrea
36	chr1:196084800-196085200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr1:196084800-196085200	Enhancers	HMEC	breast
38	chr1:196084800-196085400	Enhancers	Adipose Nuclei	Adipose
39	chr1:196085000-196086800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:196085200-196085400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:196085200-196085600	Flanking Active TSS	Fetal Heart	heart
42	chr1:196085400-196087400	Weak transcription	NHDF-Ad	bronchial
43	chr1:196085600-196086800	Weak transcription	Fetal Heart	heart
44	chr1:196086000-196086400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:196086400-196087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:196086800-196087200	Enhancers	Fetal Heart	heart
47	chr1:196087200-196097800	Weak transcription	Fetal Heart	heart
48	chr1:196087400-196087800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:196087400-196087800	Enhancers	NHDF-Ad	bronchial
50	chr1:196091400-196091800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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