Variant report

Variant	nsv464062
Chromosome Location	chr1:154630498-154669294
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:34)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154530773..154532539-chr1:154633065..154635769,2	MCF-7	breast:
2	chr1:154580675..154583480-chr1:154630285..154632454,2	MCF-7	breast:
3	chr1:154641787..154644278-chr1:154925688..154928008,2	MCF-7	breast:
4	chr1:154661775..154664625-chr1:154685043..154686615,2	MCF-7	breast:
5	chr1:154641915..154643065-chr1:154850985..154851524,3	MCF-7	breast:
6	chr1:154641835..154642437-chr1:154915935..154916477,3	K562	blood:
7	chr1:154642183..154644763-chr1:154849809..154851514,2	MCF-7	breast:
8	chr1:154660548..154662732-chr1:154671044..154673697,2	K562	blood:
9	chr1:154635571..154638158-chr1:154639651..154641695,2	MCF-7	breast:
10	chr1:154641878..154642911-chr1:154732624..154733435,5	MCF-7	breast:
11	chr1:154642280..154642814-chr1:154721088..154722074,2	MCF-7	breast:
12	chr1:154580943..154583321-chr1:154640073..154642366,2	MCF-7	breast:
13	chr1:154598865..154601453-chr1:154631624..154633469,2	K562	blood:
14	chr1:154628968..154630787-chr1:154663496..154666459,2	K562	blood:
15	chr1:154641959..154642726-chr1:154915957..154916812,4	MCF-7	breast:
16	chr1:154641931..154642817-chr1:155033668..155034517,2	K562	blood:
17	chr1:154657717..154661524-chr1:154665244..154669297,3	K562	blood:
18	chr1:154628968..154630787-chr1:154663496..154666459,2	K562	blood:
19	chr1:154599567..154601439-chr1:154629101..154631242,2	MCF-7	breast:
20	chr1:154597981..154600319-chr1:154657621..154659896,2	MCF-7	breast:
21	chr1:154641865..154642849-chr1:154850744..154851617,4	K562	blood:
22	chr1:154641631..154642786-chr1:154714011..154714953,6	MCF-7	breast:
23	chr1:154657717..154661524-chr1:154665244..154669297,3	K562	blood:
24	chr1:154641810..154642802-chr1:154721172..154722115,6	MCF-7	breast:
25	chr1:154601171..154602726-chr1:154628203..154630680,2	K562	blood:
26	chr1:154635571..154638158-chr1:154639651..154641695,2	MCF-7	breast:
27	chr1:154641878..154642825-chr1:154850662..154851834,10	MCF-7	breast:
28	chr1:154642081..154642831-chr1:154714038..154714881,2	MCF-7	breast:
29	chr1:154599079..154601763-chr1:154632456..154634320,2	MCF-7	breast:
30	chr1:154531385..154533198-chr1:154637418..154638954,2	MCF-7	breast:
31	chr1:154642012..154642684-chr1:154738461..154738989,2	MCF-7	breast:
32	chr1:154578891..154581150-chr1:154634239..154636370,2	MCF-7	breast:
33	chr1:154531471..154533038-chr1:154635436..154636984,2	MCF-7	breast:
34	chr1:154641926..154642819-chr1:154732598..154733486,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHRNB2-2	chr1:154626578-154632025	NONHSAT006637

No data

Variant related genes	Relation type
ENSG00000163346	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000160710	chromatin interactions

Extended variants
information (count: 713 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10796927	chr1:154630498-154630499	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188499955	chr1:154630516-154630517	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs555110146	chr1:154630528-154630529	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs542403441	chr1:154630529-154630530	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs141040887	chr1:154630623-154630624	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs528165155	chr1:154630647-154630648	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs56048555	chr1:154630668-154630669	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193153895	chr1:154630686-154630687	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs531982014	chr1:154630704-154630705	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs184138627	chr1:154630712-154630713	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs188393567	chr1:154630725-154630726	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs534421245	chr1:154630733-154630734	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs35904995	chr1:154630821-154630822	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs529975623	chr1:154630823-154630824	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs144953213	chr1:154630845-154630846	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs145451874	chr1:154630873-154630874	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs534285085	chr1:154630907-154630908	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs552355361	chr1:154630935-154630936	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs570948547	chr1:154630977-154630978	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs181460369	chr1:154630982-154630983	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs1395564	chr1:154630998-154630999	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556607830	chr1:154631026-154631027	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs575202608	chr1:154631036-154631037	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs536182372	chr1:154631040-154631041	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs554094455	chr1:154631076-154631077	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs11264235	chr1:154631081-154631082	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191286366	chr1:154631110-154631111	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs9427116	chr1:154631123-154631124	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564780698	chr1:154631130-154631131	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs576880696	chr1:154631152-154631153	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs113904726	chr1:154631170-154631171	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs529177211	chr1:154631207-154631208	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs562190877	chr1:154631210-154631211	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs73001457	chr1:154631225-154631226	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375607447	chr1:154631260-154631261	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs548114024	chr1:154631324-154631325	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs144947898	chr1:154631346-154631347	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs183519092	chr1:154631391-154631392	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs575138223	chr1:154631401-154631402	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs552354751	chr1:154631448-154631449	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs570819287	chr1:154631458-154631459	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs543892576	chr1:154631486-154631487	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs560695530	chr1:154631489-154631490	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs568499266	chr1:154631495-154631496	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs376324634	chr1:154631499-154631500	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs529818808	chr1:154631530-154631531	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs554138787	chr1:154631531-154631532	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs371143114	chr1:154631532-154631533	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs190687032	chr1:154631542-154631543	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs113163014	chr1:154631551-154631552	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154629600-154630600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:154634800-154635000	Enhancers	Fetal Kidney	kidney
3	chr1:154635200-154637600	Enhancers	Fetal Brain Female	brain
4	chr1:154635600-154636200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:154635600-154636400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:154635600-154637600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:154635600-154637600	Enhancers	Fetal Brain Male	brain
8	chr1:154635800-154637000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:154635800-154637600	Enhancers	Brain Germinal Matrix	brain
10	chr1:154636000-154636200	Enhancers	Primary T cells from cord blood	blood
11	chr1:154636000-154636200	Enhancers	Fetal Lung	lung
12	chr1:154636200-154636600	Enhancers	HSMM	muscle
13	chr1:154636200-154637200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:154636200-154637200	Enhancers	Fetal Muscle Leg	muscle
15	chr1:154636200-154637400	Enhancers	HSMMtube	muscle
16	chr1:154636200-154638600	Weak transcription	Fetal Lung	lung
17	chr1:154636800-154637200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:154636800-154637200	Enhancers	HSMM	muscle
19	chr1:154637000-154637400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:154637000-154637400	Enhancers	Placenta	Placenta
21	chr1:154637600-154638600	Weak transcription	Fetal Brain Female	brain
22	chr1:154637600-154638800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:154637600-154638800	Weak transcription	Fetal Brain Male	brain
24	chr1:154638600-154639200	Enhancers	Fetal Brain Female	brain
25	chr1:154638600-154639400	Enhancers	Fetal Lung	lung
26	chr1:154638800-154639000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:154638800-154639200	Active TSS	Fetal Brain Male	brain
28	chr1:154642000-154642600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:154642200-154642600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:154642200-154643200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:154642400-154642600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:154642400-154642600	Enhancers	Brain Cingulate Gyrus	brain
33	chr1:154642400-154642800	Enhancers	Primary T cells from cord blood	blood
34	chr1:154642400-154642800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:154642400-154642800	Enhancers	Brain Angular Gyrus	brain
36	chr1:154642400-154643000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:154644000-154644600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr1:154644400-154644600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:154644400-154644800	Enhancers	K562	blood
40	chr1:154645400-154645600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:154645400-154645800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:154645400-154646000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:154645600-154646000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:154645600-154646400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:154645600-154646400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:154646200-154646400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:154652200-154652800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:154659200-154660000	Enhancers	Fetal Brain Male	brain
49	chr1:154659400-154660000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:154660000-154661600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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