Variant report

Variant	nsv998365
Chromosome Location	chr1:195755734-195779949
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195750720..195752669-chr1:195758254..195760737,2	MCF-7	breast:
2	chr1:195762140..195764635-chr1:195768082..195769673,2	K562	blood:
3	chr1:195743372..195746056-chr1:195755378..195757167,2	K562	blood:
4	chr1:195762140..195764635-chr1:195768082..195769673,2	K562	blood:
5	chr1:195772551..195774478-chr1:195777510..195779769,2	MCF-7	breast:
6	chr1:195772551..195774478-chr1:195777510..195779769,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-3	chr1:195779787-195779962	NONHSAT008592

No data

Extended variants
information (count: 902 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:902 , 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	rs546563123	chr1:195755746-195755747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568372031	chr1:195755747-195755748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560103076	chr1:195755756-195755757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559031495	chr1:195755775-195755776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77171449	chr1:195755878-195755879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16838920	chr1:195755879-195755880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558304775	chr1:195755883-195755884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57219779	chr1:195755891-195755892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77567380	chr1:195756016-195756017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559588975	chr1:195756041-195756042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555780182	chr1:195756098-195756099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574312988	chr1:195756133-195756134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544160115	chr1:195756156-195756157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370561924	chr1:195756179-195756180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562546423	chr1:195756191-195756192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548966496	chr1:195756195-195756196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142589270	chr1:195756282-195756283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145998822	chr1:195756340-195756341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113740780	chr1:195756341-195756342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141208721	chr1:195756348-195756349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181127909	chr1:195756372-195756373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568257211	chr1:195756404-195756405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548123448	chr1:195756422-195756423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186445472	chr1:195756447-195756448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550549891	chr1:195756457-195756458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568895544	chr1:195756490-195756491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2989977	chr1:195756512-195756513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557544024	chr1:195756531-195756532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566605642	chr1:195756538-195756539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139051016	chr1:195756546-195756547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189284014	chr1:195756558-195756559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577226806	chr1:195756560-195756561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544524713	chr1:195756561-195756562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556103252	chr1:195756566-195756567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577601460	chr1:195756584-195756585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550330894	chr1:195756589-195756590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145012609	chr1:195756666-195756667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2989978	chr1:195756688-195756689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180875763	chr1:195756696-195756697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2942924	chr1:195756730-195756731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187379456	chr1:195756755-195756756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190713288	chr1:195756784-195756785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572175877	chr1:195756864-195756865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550911288	chr1:195756891-195756892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569200820	chr1:195756903-195756904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532952177	chr1:195756941-195756942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182964747	chr1:195757038-195757039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541652186	chr1:195757044-195757045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566401273	chr1:195757112-195757113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554283925	chr1:195757118-195757119	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
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
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195755600-195759800	Weak transcription	Fetal Lung	lung
2	chr1:195756400-195759800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:195758400-195761400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:195759800-195760000	Enhancers	Fetal Lung	lung
5	chr1:195759800-195760400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:195760800-195761600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:195763600-195768400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:195764400-195789400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:195768400-195769200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:195774800-195775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:195775000-195775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:195775200-195775400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links