Variant report

Variant	esv2750821
Chromosome Location	chr1:191459828-191621792
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:50)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
2	chr1:191533124..191535603-chr12:13731082..13733492,2	MCF-7	breast:
3	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
4	chr1:191160823..191162731-chr1:191477898..191480311,2	K562	blood:
5	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
6	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
7	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
8	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
9	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
10	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
11	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
12	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
13	chr1:191506403..191509431-chr1:191514929..191518614,3	K562	blood:
14	chr1:191507022..191509468-chr1:191509511..191511062,2	K562	blood:
15	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
16	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:
17	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:
18	chr1:191502483..191504253-chr17:56707440..56709288,2	MCF-7	breast:
19	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
20	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
21	chr1:191507997..191509921-chr1:191510626..191513228,2	MCF-7	breast:
22	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
23	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
24	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
25	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
26	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
27	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
28	chr1:191530245..191535067-chr1:191535376..191537861,5	K562	blood:
29	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
30	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
31	chr1:76262387..76264305-chr1:191498781..191500281,2	K562	blood:
32	chr1:191506403..191509431-chr1:191514929..191518614,3	K562	blood:
33	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
34	chr1:191433727..191435829-chr1:191471858..191473427,2	K562	blood:
35	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
36	chr1:191420711..191422302-chr1:191475055..191477121,2	K562	blood:
37	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
38	chr1:191507997..191509921-chr1:191510626..191513228,2	MCF-7	breast:
39	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
40	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
41	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
42	chr1:191507022..191509468-chr1:191509511..191511062,2	K562	blood:
43	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
44	chr1:191455290..191457922-chr1:191460809..191463001,2	MCF-7	breast:
45	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
46	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
47	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
48	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
49	chr1:191530245..191535067-chr1:191535376..191537861,5	K562	blood:
50	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-9	chr1:191584886-191585028	NONHSAT008519
2	lnc-RGS18-9	chr1:191586857-191586992	NONHSAT008519
3	lnc-RGS18-9	chr1:191601401-191601706	NONHSAT008519
4	lnc-RGS18-10	chr1:191494155-191494355	expReg_chr1_21196_+
5	lnc-FAM5C-13	chr1:191487184-191487423	predAs_chen_BG220711_1
6	lnc-RGS18-9	chr1:191540498-191540691	NONHSAT008519

No data

Variant related genes	Relation type
ENSG00000057468	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 2888 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2888 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113779317	chr1:191460640-191460641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537650205	chr1:191460641-191460642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558909781	chr1:191460661-191460662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368464170	chr1:191460690-191460691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140902384	chr1:191460722-191460723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556294731	chr1:191460748-191460749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150131863	chr1:191460774-191460775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536796358	chr1:191460786-191460787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550791137	chr1:191460890-191460891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567508014	chr1:191460891-191460892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184954289	chr1:191460934-191460935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555924457	chr1:191460965-191460966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115069672	chr1:191460970-191460971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577679423	chr1:191460997-191460998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201688112	chr1:191461037-191461038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367611342	chr1:191461043-191461044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535034696	chr1:191461081-191461082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72744325	chr1:191461104-191461105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188213150	chr1:191461141-191461142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553514673	chr1:191461168-191461169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6696324	chr1:191461176-191461177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563533853	chr1:191461200-191461201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573932988	chr1:191461227-191461228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12565148	chr1:191461228-191461229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559035955	chr1:191461233-191461234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528033012	chr1:191461242-191461243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544989627	chr1:191461258-191461259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564772510	chr1:191461267-191461268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530824497	chr1:191461303-191461304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371855465	chr1:191461306-191461307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114528359	chr1:191461326-191461327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567445108	chr1:191461341-191461342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529935214	chr1:191461372-191461373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368626562	chr1:191461492-191461493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375133193	chr1:191461493-191461494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74782489	chr1:191461572-191461573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566176519	chr1:191461575-191461576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377161017	chr1:191461577-191461578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76187923	chr1:191461694-191461695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558130889	chr1:191461701-191461702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372003796	chr1:191461719-191461720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192966388	chr1:191461720-191461721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531995995	chr1:191461760-191461761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368998656	chr1:191461808-191461809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12043748	chr1:191461812-191461813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12079313	chr1:191461856-191461857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543679948	chr1:191461859-191461860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573871134	chr1:191461884-191461885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568378253	chr1:191461885-191461886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138852092	chr1:191461953-191461954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Parathyroid adenoma	20824076	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191460600-191461000	Enhancers	Brain Cingulate Gyrus	brain
2	chr1:191460800-191461000	Enhancers	Brain Hippocampus Middle	brain
3	chr1:191461000-191461800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:191461000-191462000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:191461800-191462200	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:191462000-191462200	Enhancers	Brain Hippocampus Middle	brain
7	chr1:191465000-191467800	Weak transcription	HUVEC	blood vessel
8	chr1:191465200-191465600	Enhancers	Fetal Heart	heart
9	chr1:191465200-191465600	Enhancers	K562	blood
10	chr1:191467600-191468200	Enhancers	A549	lung
11	chr1:191467800-191468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:191467800-191468200	Enhancers	HUVEC	blood vessel
13	chr1:191476200-191476600	Active TSS	K562	blood
14	chr1:191477200-191478000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191477400-191477800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:191477800-191481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:191488600-191489600	Active TSS	A549	lung
18	chr1:191489600-191490000	Flanking Active TSS	A549	lung
19	chr1:191490000-191492000	Enhancers	A549	lung
20	chr1:191496800-191498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:191497400-191497800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:191497400-191497800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:191497400-191497800	Enhancers	Colon Smooth Muscle	Colon
24	chr1:191497400-191497800	Enhancers	Rectal Smooth Muscle	rectum
25	chr1:191500000-191500600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:191501200-191501800	Enhancers	Fetal Heart	heart
27	chr1:191502400-191502800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:191502400-191502800	Active TSS	Gastric	stomach
29	chr1:191503000-191503400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:191503000-191503600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:191503000-191503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:191503200-191503600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:191503200-191503600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:191503200-191503800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:191503600-191503800	Enhancers	Fetal Intestine Large	intestine
36	chr1:191504000-191505000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:191505000-191505800	Enhancers	Fetal Intestine Large	intestine
38	chr1:191527200-191527800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:191527600-191527800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:191527600-191528000	Enhancers	K562	blood
41	chr1:191527800-191528200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:191527800-191529600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:191528200-191528400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:191529600-191530600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:191529800-191530800	Enhancers	Fetal Intestine Small	intestine
46	chr1:191530000-191530800	Enhancers	Fetal Intestine Large	intestine
47	chr1:191530400-191531600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:191530600-191533400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:191533400-191533600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:191533600-191534000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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