Variant report

Variant	nsv832137
Chromosome Location	chr1:191931044-192069133
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:49)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191962364..191963024-chr1:192207187..192208134,3	MCF-7	breast:
2	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
3	chr1:192051966..192054959-chr1:192058136..192060540,2	K562	blood:
4	chr1:192046869..192049512-chr1:192053262..192055548,2	K562	blood:
5	chr1:192050024..192050940-chr17:59384964..59385885,2	MCF-7	breast:
6	chr1:191962436..191963394-chr1:192279940..192280907,5	MCF-7	breast:
7	chr1:192028856..192031343-chr1:192071559..192073280,2	MCF-7	breast:
8	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
9	chr1:192010337..192012838-chr1:192014491..192017057,2	K562	blood:
10	chr1:191940309..191942530-chr1:191943352..191946164,2	K562	blood:
11	chr1:192046869..192049512-chr1:192053262..192055548,2	K562	blood:
12	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
13	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
14	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
15	chr1:192021477..192022058-chr16:47435294..47435896,2	MCF-7	breast:
16	chr1:192037682..192039562-chr1:192040739..192043253,2	K562	blood:
17	chr1:192039787..192042717-chr1:192044307..192047075,2	K562	blood:
18	chr1:192051966..192054959-chr1:192058136..192060540,2	K562	blood:
19	chr1:192012053..192014426-chr1:192172239..192174026,2	K562	blood:
20	chr1:192039787..192042717-chr1:192044307..192047075,2	K562	blood:
21	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:
22	chr1:192027494..192029888-chr1:192193089..192195072,2	K562	blood:
23	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
24	chr1:191940309..191942530-chr1:191943352..191946164,2	K562	blood:
25	chr1:191962363..191963273-chr1:192414655..192415586,4	MCF-7	breast:
26	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:
27	chr1:192056543..192058174-chr1:192064792..192067325,2	K562	blood:
28	chr1:192056543..192058174-chr1:192064792..192067325,2	K562	blood:
29	chr1:192037372..192039220-chr1:192107590..192109278,2	MCF-7	breast:
30	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
31	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
32	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:
33	chr1:192005908..192008351-chr1:192010498..192012600,2	K562	blood:
34	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:
35	chr1:192023650..192025961-chr1:192026111..192027697,2	K562	blood:
36	chr1:191931501..191932320-chr18:10905847..10906400,2	MCF-7	breast:
37	chr1:192023650..192025961-chr1:192026111..192027697,2	K562	blood:
38	chr1:191925492..191927826-chr1:191930519..191932628,2	K562	blood:
39	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
40	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
41	chr1:191962409..191963306-chr1:192269925..192270965,3	MCF-7	breast:
42	chr1:191987720..191989811-chr1:191996647..191998469,2	K562	blood:
43	chr1:191945321..191947013-chr1:191966427..191969143,2	K562	blood:
44	chr1:192037682..192039562-chr1:192040739..192043253,2	K562	blood:
45	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
46	chr1:191945321..191947013-chr1:191966427..191969143,2	K562	blood:
47	chr1:191987720..191989811-chr1:191996647..191998469,2	K562	blood:
48	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
49	chr1:191962303..191963405-chr1:192414719..192415460,4	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-1	chr1:191946369-191946489	ENSG00000228215.2
2	lnc-RGS18-1	chr1:191945101-191945214	ENSG00000228215.2
3	lnc-RGS18-8	chr1:191962585-191962936	NONHSAT008525
4	lnc-RGS18-1	chr1:191945101-191945241	XLOC_000507
5	lnc-RGS18-1	chr1:191933524-191933619	XLOC_000507
6	lnc-RGS18-1	chr1:191934452-191934543	XLOC_000507
7	lnc-RGS18-1	chr1:191978969-191980390	ENSG00000228215.2
8	lnc-RGS18-1	chr1:191934452-191934543	ENSG00000228215.2
9	lnc-RGS18-1	chr1:191978891-191980390	XLOC_000507
10	lnc-RGS18-1	chr1:191933524-191933619	ENSG00000228215.2
11	lnc-RGS18-8	chr1:191961354-191961438	NONHSAT008525

No data

Extended variants
information (count: 2370 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2370 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570525416	chr1:191931643-191931644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539092384	chr1:191931664-191931665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540646792	chr1:191931788-191931789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114157871	chr1:191931791-191931792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535335001	chr1:191931872-191931873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577360044	chr1:191931892-191931893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374445835	chr1:191931894-191931895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555143377	chr1:191931902-191931903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571867359	chr1:191931930-191931931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541209298	chr1:191931957-191931958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12090456	chr1:191932014-191932015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559331557	chr1:191932022-191932023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12064769	chr1:191932047-191932048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545894474	chr1:191932050-191932051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148089846	chr1:191932062-191932063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532048477	chr1:191932120-191932121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542501610	chr1:191932239-191932240	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs67676617	chr1:191932240-191932241	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370366201	chr1:191932249-191932250	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562362036	chr1:191932250-191932251	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73057105	chr1:191932272-191932273	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28667183	chr1:191932291-191932292	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570490187	chr1:191932365-191932366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533007782	chr1:191932375-191932376	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549385029	chr1:191932419-191932420	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs184532073	chr1:191932459-191932460	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189054909	chr1:191932471-191932472	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570636435	chr1:191932476-191932477	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565959747	chr1:191932501-191932502	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563745602	chr1:191932549-191932550	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12141491	chr1:191932575-191932576	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557918019	chr1:191932577-191932578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577290217	chr1:191932605-191932606	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547440019	chr1:191932613-191932614	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539875921	chr1:191932630-191932631	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs141300832	chr1:191932665-191932666	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs57772851	chr1:191932666-191932667	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566101517	chr1:191932753-191932754	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542243880	chr1:191932800-191932801	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12144141	chr1:191932822-191932823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115506525	chr1:191932878-191932879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544702461	chr1:191932885-191932886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564671384	chr1:191933074-191933075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9427553	chr1:191933083-191933084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs181374639	chr1:191933126-191933127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146277006	chr1:191933153-191933154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139444852	chr1:191933199-191933200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548548166	chr1:191933202-191933203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565868262	chr1:191933217-191933218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534891113	chr1:191933225-191933226	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191931600-191932400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:191931600-191933600	Enhancers	HSMMtube	muscle
3	chr1:191932000-191932200	Enhancers	HSMM	muscle
4	chr1:191932000-191933800	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:191932000-191934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:191932200-191932600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:191932200-191932600	Flanking Active TSS	HSMM	muscle
8	chr1:191932200-191932800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:191932200-191933200	Enhancers	NHEK	skin
10	chr1:191932200-191933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:191932200-191933600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:191932200-191933800	Enhancers	Fetal Heart	heart
13	chr1:191932400-191932800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:191932400-191933000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:191932400-191933000	Enhancers	NH-A	brain
16	chr1:191932600-191933000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:191932600-191933200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:191932600-191933200	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:191932600-191933800	Enhancers	HSMM	muscle
20	chr1:191932800-191934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:191933000-191933400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:191933800-191935200	Weak transcription	Fetal Heart	heart
23	chr1:191935200-191935400	Enhancers	Fetal Heart	heart
24	chr1:191938400-191938800	Enhancers	Fetal Muscle Leg	muscle
25	chr1:191939800-191941200	Enhancers	Dnd41	blood
26	chr1:191952400-191953000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:191953000-191954400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:191953200-191957200	Weak transcription	Gastric	stomach
29	chr1:191955600-191956200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:191957200-191957600	ZNF genes & repeats	Gastric	stomach
31	chr1:191974800-191975800	Enhancers	Dnd41	blood
32	chr1:191975200-191975600	Enhancers	K562	blood
33	chr1:191975800-191979200	Weak transcription	Dnd41	blood
34	chr1:191979200-191979800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:191979200-191980200	Enhancers	Dnd41	blood
36	chr1:191979600-191980200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:191979600-191980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:191992000-191992800	Enhancers	Fetal Intestine Small	intestine
39	chr1:191998200-191999600	Enhancers	Dnd41	blood
40	chr1:192010000-192010400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:192013800-192014600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:192013800-192014800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:192014000-192014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:192014000-192014800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:192014200-192014600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:192014200-192014600	Enhancers	Dnd41	blood
47	chr1:192014800-192020200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:192019600-192020600	Enhancers	Colon Smooth Muscle	Colon
49	chr1:192020200-192020600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:192020200-192020600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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