Variant report

Variant	nsv873154
Chromosome Location	chr1:211057697-211117197
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:24)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211081640..211084385-chr1:211086454..211088372,2	K562	blood:
2	chr1:211069010..211070968-chr1:211071970..211074084,2	K562	blood:
3	chr1:211081640..211084385-chr1:211086454..211088372,2	K562	blood:
4	chr1:211068269..211070405-chr1:211089672..211092278,2	K562	blood:
5	chr1:211084542..211086071-chr1:211091285..211093139,2	MCF-7	breast:
6	chr1:211068269..211070405-chr1:211089672..211092278,2	K562	blood:
7	chr1:211066382..211068905-chr1:211069492..211072195,2	K562	blood:
8	chr1:211070734..211072894-chr1:211089401..211091123,2	K562	blood:
9	chr1:211109430..211112551-chr1:211113877..211116492,3	K562	blood:
10	chr1:211066382..211068905-chr1:211069492..211072195,2	K562	blood:
11	chr1:211053499..211055688-chr1:211056595..211058715,2	K562	blood:
12	chr1:211085731..211087524-chr1:211090646..211093689,3	K562	blood:
13	chr1:211113880..211115899-chr1:211118245..211120568,2	K562	blood:
14	chr1:211081640..211084626-chr1:211086454..211089760,4	K562	blood:
15	chr1:211084542..211086071-chr1:211091285..211093139,2	MCF-7	breast:
16	chr1:211109430..211112551-chr1:211113877..211116492,3	K562	blood:
17	chr1:211113979..211116168-chr1:211116520..211118696,2	K562	blood:
18	chr1:211081640..211084626-chr1:211086454..211089760,4	K562	blood:
19	chr1:211070734..211072894-chr1:211089401..211091123,2	K562	blood:
20	chr1:211113979..211116168-chr1:211116520..211118696,2	K562	blood:
21	chr1:211079490..211081106-chr1:211190726..211193541,2	K562	blood:
22	chr1:211085731..211087524-chr1:211090646..211093689,3	K562	blood:
23	chr1:210628672..210630917-chr1:211075753..211078223,2	K562	blood:
24	chr1:211069010..211070968-chr1:211071970..211074084,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RD3-8	chr1:211097731-211098053	ucscGeneNc_uc001hjr_2
2	lnc-RD3-8	chr1:211096570-211097137	ucscGeneNc_uc001hjr_2
3	lnc-HHAT-4	chr1:211104253-211104500	expReg_chr1_23021_+

No data

Extended variants
information (count: 2321 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2321 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11119626	chr1:211057697-211057698	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547656288	chr1:211057723-211057724	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562168858	chr1:211057729-211057730	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529405831	chr1:211057743-211057744	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547854463	chr1:211057774-211057775	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559464120	chr1:211057784-211057785	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533327712	chr1:211057800-211057801	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11119627	chr1:211057818-211057819	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570683554	chr1:211057938-211057939	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531407844	chr1:211058006-211058007	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185687090	chr1:211058010-211058011	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549560978	chr1:211058057-211058058	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567854579	chr1:211058063-211058064	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146532892	chr1:211058069-211058070	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188832767	chr1:211058070-211058071	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565561052	chr1:211058075-211058076	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539386025	chr1:211058097-211058098	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181305961	chr1:211058101-211058102	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558177597	chr1:211058110-211058111	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576631445	chr1:211058117-211058118	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544078841	chr1:211058145-211058146	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564046344	chr1:211058146-211058147	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150209459	chr1:211058197-211058198	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574222034	chr1:211058258-211058259	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138600009	chr1:211058288-211058289	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559761113	chr1:211058363-211058364	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186766663	chr1:211058402-211058403	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191663214	chr1:211058441-211058442	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564269567	chr1:211058493-211058494	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531493385	chr1:211058565-211058566	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540810094	chr1:211058587-211058588	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549598071	chr1:211058595-211058596	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567892730	chr1:211058718-211058719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114911326	chr1:211058720-211058721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547106409	chr1:211058730-211058731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565729903	chr1:211058749-211058750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539067666	chr1:211058794-211058795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183907691	chr1:211058817-211058818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149304978	chr1:211058818-211058819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560716953	chr1:211058824-211058825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564000697	chr1:211058838-211058839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34976360	chr1:211058839-211058840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397863691	chr1:211058848-211058849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537727697	chr1:211058856-211058857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556065459	chr1:211058863-211058864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71638192	chr1:211058869-211058870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570047788	chr1:211058949-211058950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11587805	chr1:211059015-211059016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541596025	chr1:211059053-211059054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146979479	chr1:211059058-211059059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211055200-211058400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:211055600-211057800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:211055600-211058200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:211055600-211058200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:211056000-211057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:211056200-211058400	Enhancers	HSMMtube	muscle
7	chr1:211056600-211057800	Enhancers	Brain Anterior Caudate	brain
8	chr1:211056600-211057800	Enhancers	A549	lung
9	chr1:211056800-211057800	Enhancers	Osteobl	bone
10	chr1:211056800-211058000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:211056800-211058000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:211056800-211058000	Enhancers	NH-A	brain
13	chr1:211056800-211058600	Genic enhancers	HSMM	muscle
14	chr1:211056800-211078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:211057000-211057800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:211057000-211058000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:211057400-211058200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:211057800-211058200	Weak transcription	Brain Anterior Caudate	brain
19	chr1:211058000-211058200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:211058200-211058600	Enhancers	Brain Anterior Caudate	brain
21	chr1:211058200-211059200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:211058400-211077400	Weak transcription	HSMMtube	muscle
23	chr1:211058600-211067200	Weak transcription	HSMM	muscle
24	chr1:211059200-211059600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:211067200-211068400	ZNF genes & repeats	HSMM	muscle
26	chr1:211068200-211068400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:211068400-211069800	Strong transcription	HSMM	muscle
28	chr1:211068400-211078000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:211069000-211079400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:211069800-211070400	Weak transcription	HSMM	muscle
31	chr1:211070400-211070600	Strong transcription	HSMM	muscle
32	chr1:211070600-211078200	Weak transcription	HSMM	muscle
33	chr1:211072200-211074200	Enhancers	Liver	Liver
34	chr1:211072400-211072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:211072600-211073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:211073400-211074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:211073400-211074400	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:211073600-211073800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:211073600-211074400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:211073800-211074400	Enhancers	Brain Hippocampus Middle	brain
41	chr1:211073800-211074600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:211073800-211074600	Enhancers	Brain Angular Gyrus	brain
43	chr1:211073800-211074800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:211074400-211074800	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:211074400-211076200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:211074400-211078800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:211074600-211074800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:211074600-211075600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:211074600-211077000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:211074800-211075000	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links