Variant report

Variant	esv2762212
Chromosome Location	chr1:195797081-195820890
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	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
2	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
3	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
4	chr1:195803018..195804625-chr1:195806055..195808518,2	K562	blood:
5	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
6	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
7	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
8	chr1:195798467..195799379-chr17:58126930..58127634,2	MCF-7	breast:
9	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:
10	chr1:195803018..195804625-chr1:195806055..195808518,2	K562	blood:
11	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
12	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:

No data

Extended variants
information (count: 825 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542507377	chr1:195797115-195797116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143098870	chr1:195797164-195797165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190431649	chr1:195797183-195797184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543461472	chr1:195797184-195797185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556228864	chr1:195797205-195797206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201736755	chr1:195797258-195797259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199672461	chr1:195797259-195797260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200421174	chr1:195797261-195797262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72392606	chr1:195797262-195797263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386369211	chr1:195797264-195797265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71152396	chr1:195797288-195797289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75360849	chr1:195797289-195797290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74767940	chr1:195797290-195797291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149348162	chr1:195797292-195797293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564903946	chr1:195797347-195797348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374844802	chr1:195797359-195797360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181703720	chr1:195797372-195797373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148214800	chr1:195797382-195797383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141176020	chr1:195797456-195797457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577981495	chr1:195797459-195797460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530319463	chr1:195797556-195797557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536943661	chr1:195797558-195797559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570345022	chr1:195797567-195797568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545016986	chr1:195797578-195797579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78592535	chr1:195797581-195797582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552136877	chr1:195797583-195797584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186580584	chr1:195797617-195797618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534789931	chr1:195797640-195797641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553053486	chr1:195797667-195797668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188482480	chr1:195797669-195797670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536459492	chr1:195797693-195797694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554537277	chr1:195797716-195797717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576263092	chr1:195797736-195797737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543776836	chr1:195797746-195797747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558579526	chr1:195797773-195797774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114520072	chr1:195797801-195797802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541083862	chr1:195797828-195797829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4604678	chr1:195797849-195797850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs530200090	chr1:195797881-195797882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372661147	chr1:195797884-195797885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113423919	chr1:195797898-195797899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147316647	chr1:195797905-195797906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531098822	chr1:195797922-195797923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75154656	chr1:195797958-195797959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398089783	chr1:195797960-195797961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180942758	chr1:195797995-195797996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570465941	chr1:195798011-195798012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185170007	chr1:195798033-195798034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189780289	chr1:195798045-195798046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4130440	chr1:195798064-195798065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195794200-195800400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:195794400-195797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:195794400-195797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:195794400-195797400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:195794400-195797400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:195794400-195797600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:195794600-195797800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:195796800-195798200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195796800-195798400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:195797200-195797800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:195797400-195797800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:195797400-195797800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:195797400-195797800	Enhancers	HMEC	breast
14	chr1:195797400-195798000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:195797400-195798200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:195797400-195798200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:195797400-195798600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:195797600-195798200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:195797800-195798200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:195797800-195800400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:195798000-195800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:195798200-195800200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:195798200-195800200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:195798200-195800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:195798200-195800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:195798600-195800400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:195800200-195800600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:195800200-195800800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:195800400-195800800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:195800400-195801200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:195800400-195801200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:195800400-195801200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:195800400-195801200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:195800400-195801200	Enhancers	K562	blood
35	chr1:195800600-195800800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:195800600-195801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:195801200-195801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:195801200-195804200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:195804200-195805200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:195805200-195806600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:195806600-195807400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:195806800-195808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:195812400-195814000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:195813000-195813200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:195813200-195814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:195814000-195814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:195814000-195814800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:195814000-195815600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:195814200-195814400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
50	chr1:195814200-195815400	Enhancers	HUES64 Cell Line	embryonic stem cell

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