Variant report

Variant	nsv4410
Chromosome Location	chr1:211193724-211210571
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	chr1:211203078..211205733-chr1:211206241..211207793,2	K562	blood:
2	chr1:211203078..211205733-chr1:211206241..211207793,2	K562	blood:

Extended variants
information (count: 641 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141731012	chr1:211193801-211193802	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201806102	chr1:211193834-211193835	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112446094	chr1:211193841-211193842	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397775103	chr1:211193844-211193845	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11119659	chr1:211193848-211193849	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74965556	chr1:211193875-211193876	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569277197	chr1:211193895-211193896	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184162246	chr1:211193898-211193899	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189576492	chr1:211193900-211193901	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538689071	chr1:211193909-211193910	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530191448	chr1:211193915-211193916	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542272686	chr1:211193938-211193939	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181231216	chr1:211193999-211194000	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184325327	chr1:211194052-211194053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560753076	chr1:211194058-211194059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12072849	chr1:211194196-211194197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549244795	chr1:211194210-211194211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12078498	chr1:211194215-211194216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550327790	chr1:211194221-211194222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146285402	chr1:211194230-211194231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35891554	chr1:211194287-211194288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535924625	chr1:211194288-211194289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397794452	chr1:211194294-211194295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397785553	chr1:211194295-211194296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536914252	chr1:211194338-211194339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34762596	chr1:211194342-211194343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554181955	chr1:211194347-211194348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372057775	chr1:211194385-211194386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57179129	chr1:211194404-211194405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138086156	chr1:211194585-211194586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577430464	chr1:211194617-211194618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544840295	chr1:211194618-211194619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556775221	chr1:211194632-211194633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189071789	chr1:211194641-211194642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571606942	chr1:211194651-211194652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12074042	chr1:211194652-211194653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560331895	chr1:211194691-211194692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527692053	chr1:211194695-211194696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540828455	chr1:211194736-211194737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545841217	chr1:211194766-211194767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554005365	chr1:211194774-211194775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565202433	chr1:211194775-211194776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113891932	chr1:211194798-211194799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186132274	chr1:211194810-211194811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149458529	chr1:211194832-211194833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577651883	chr1:211194871-211194872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11119660	chr1:211194896-211194897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567081629	chr1:211194918-211194919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191848989	chr1:211194933-211194934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34414913	chr1:211194941-211194942	Weak transcription Enhancers	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
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
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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211181800-211193800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:211182800-211228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211184800-211198600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:211185200-211194000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:211187000-211198200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:211187600-211198200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:211190600-211198800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:211192400-211194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:211192400-211194800	Weak transcription	A549	lung
10	chr1:211192400-211198400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:211192600-211198400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:211192600-211199800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:211192600-211209000	Weak transcription	HSMMtube	muscle
14	chr1:211192800-211193800	Weak transcription	HSMM	muscle
15	chr1:211193800-211194000	Genic enhancers	HSMM	muscle
16	chr1:211194000-211194400	Enhancers	HSMM	muscle
17	chr1:211194400-211209200	Weak transcription	HSMM	muscle
18	chr1:211194800-211195000	Enhancers	A549	lung
19	chr1:211195000-211196000	Weak transcription	A549	lung
20	chr1:211198200-211198400	Enhancers	Brain Angular Gyrus	brain
21	chr1:211198200-211199000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:211198400-211198600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:211198400-211198800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:211198600-211199400	Enhancers	Brain Hippocampus Middle	brain
25	chr1:211198800-211199000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:211198800-211209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:211199800-211200200	Enhancers	Brain Substantia Nigra	brain
28	chr1:211207400-211207800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:211207600-211207800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:211207600-211208000	Enhancers	Fetal Brain Male	brain
31	chr1:211207800-211208200	Enhancers	NHDF-Ad	bronchial
32	chr1:211207800-211209200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:211208000-211209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:211208200-211209200	Weak transcription	NHDF-Ad	bronchial
35	chr1:211208200-211209800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:211209000-211211200	Enhancers	HSMMtube	muscle
37	chr1:211209200-211210000	Genic enhancers	HSMM	muscle
38	chr1:211209200-211211000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:211209200-211211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:211209200-211211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:211209200-211211200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:211209200-211211200	Enhancers	NHDF-Ad	bronchial
43	chr1:211209400-211210800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:211209400-211211200	Enhancers	NH-A	brain
45	chr1:211209400-211211200	Enhancers	Osteobl	bone
46	chr1:211209600-211210000	Enhancers	A549	lung
47	chr1:211209600-211210200	Enhancers	NHLF	lung
48	chr1:211209600-211211200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:211209800-211210000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:211209800-211210400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links