Variant report

Variant	nsv947134
Chromosome Location	chr1:160742631-160749214
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160746990..160747846-chr1:160800020..160801002,2	K562	blood:
2	chr1:160696267..160696909-chr1:160747036..160748093,3	MCF-7	breast:
3	chr1:160748693..160751200-chr1:160804767..160806895,2	MCF-7	breast:
4	chr1:160746903..160747909-chr1:160800008..160800911,3	MCF-7	breast:
5	chr1:160746479..160747897-chr1:160799771..160800945,11	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLAMF7-1	chr1:160743317-160745088	ENSG00000250225
2	lnc-SLAMF7-1	chr1:160745416-160746080	ENSG00000250225

No data

Variant related genes	Relation type
PTEN	miRNA target sites
ATL2	miRNA target sites

Extended variants
information (count: 242 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79678511	chr1:160742632-160742633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575981967	chr1:160742637-160742638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs471256	chr1:160742649-160742650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561636952	chr1:160742684-160742685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527332102	chr1:160742740-160742741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190804841	chr1:160742769-160742770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142770294	chr1:160742793-160742794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs488955	chr1:160742800-160742801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182274059	chr1:160742802-160742803	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560855308	chr1:160742803-160742804	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532362301	chr1:160742832-160742833	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532943216	chr1:160742837-160742838	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558806	chr1:160742850-160742851	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569609291	chr1:160742863-160742864	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529309209	chr1:160742904-160742905	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549321129	chr1:160742950-160742951	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566046805	chr1:160742962-160742963	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535092144	chr1:160743007-160743008	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558402780	chr1:160743029-160743030	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571904020	chr1:160743073-160743074	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537620924	chr1:160743082-160743083	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557734492	chr1:160743094-160743095	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574267813	chr1:160743147-160743148	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186013099	chr1:160743190-160743191	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377581309	chr1:160743198-160743199	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555313923	chr1:160743286-160743287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572061122	chr1:160743336-160743337	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs139461407	chr1:160743368-160743369	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs563813458	chr1:160743370-160743371	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs74537655	chr1:160743411-160743412	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs112504955	chr1:160743449-160743450	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs190870183	chr1:160743452-160743453	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs34409473	chr1:160743457-160743458	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs374356875	chr1:160743481-160743482	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs183217754	chr1:160743493-160743494	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs368509270	chr1:160743560-160743561	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs142652195	chr1:160743564-160743565	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs187127856	chr1:160743567-160743568	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs551933568	chr1:160743595-160743596	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs78146867	chr1:160743600-160743601	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs536751318	chr1:160743609-160743610	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs75920012	chr1:160743631-160743632	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs551146347	chr1:160743649-160743650	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs567885015	chr1:160743708-160743709	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs16832357	chr1:160743743-160743744	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12068654	chr1:160743749-160743750	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
47	rs572031845	chr1:160743752-160743753	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs75942674	chr1:160743764-160743765	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs549353136	chr1:160743801-160743802	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs529346	chr1:160743809-160743810	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:109)

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
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
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
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
Ewing''s sarcoma	21437220	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
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160738200-160745200	Weak transcription	Primary B cells from cord blood	blood
2	chr1:160738400-160747400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:160738600-160744800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:160740400-160744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:160741600-160742800	Enhancers	GM12878-XiMat	blood
6	chr1:160742800-160743200	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:160743200-160747400	Enhancers	GM12878-XiMat	blood
8	chr1:160743600-160744000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:160743800-160745200	Weak transcription	Esophagus	oesophagus
10	chr1:160744200-160745200	Enhancers	NHEK	skin
11	chr1:160744400-160746400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:160744600-160745200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:160744600-160745400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:160744600-160745600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:160744600-160745600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:160744600-160746000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:160744800-160745000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:160744800-160745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:160744800-160745200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:160744800-160745200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:160744800-160745200	Enhancers	Dnd41	blood
22	chr1:160744800-160745400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:160744800-160745400	Enhancers	Primary T cells from cord blood	blood
24	chr1:160744800-160745400	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:160744800-160745400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:160744800-160745400	Enhancers	HMEC	breast
27	chr1:160744800-160745600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:160744800-160745600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:160744800-160746000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr1:160744800-160747800	Enhancers	Fetal Thymus	thymus
31	chr1:160745000-160745200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:160745000-160745600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:160745200-160745400	Enhancers	Esophagus	oesophagus
34	chr1:160745200-160747000	Enhancers	Primary B cells from cord blood	blood
35	chr1:160745200-160747000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:160745200-160750200	Weak transcription	NHEK	skin
37	chr1:160745200-160750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:160745200-160751200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:160745400-160747600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:160745400-160747600	Weak transcription	Esophagus	oesophagus
41	chr1:160745400-160750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:160745400-160750800	Weak transcription	HMEC	breast
43	chr1:160745400-160764800	Weak transcription	Primary T cells from cord blood	blood
44	chr1:160745600-160746800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:160745800-160746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:160746000-160747800	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:160746200-160746400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:160746400-160751000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:160747000-160747800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr1:160747000-160751400	Weak transcription	Primary B cells from cord blood	blood

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