Variant report

Variant	nsv946460
Chromosome Location	chr1:161329280-161332804
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:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:161329560..161333397-chr1:161333854..161338918,6	K562	blood:
2	chr1:161170781..161174901-chr1:161330180..161333621,3	K562	blood:
3	chr1:161328582..161330523-chr1:161333612..161336160,2	MCF-7	breast:
4	chr1:161185948..161188924-chr1:161331742..161333361,2	K562	blood:
5	chr1:161325100..161326776-chr1:161327594..161329572,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCP4L1-2	chr1:161332625-161332977	NONHSAT007157

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SDHC	hsa-miR-320a	chr1:161332514-161332536
2	SDHC	hsa-miR-320a	chr1:161332529-161332535

Variant related genes	Relation type
ENSG00000235477	chromatin interactions
ENSG00000188931	chromatin interactions
ENSG00000158864	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565607457	chr1:161329289-161329290	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528225928	chr1:161329290-161329291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12730813	chr1:161329330-161329331	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs190586254	chr1:161329362-161329363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562258287	chr1:161329363-161329364	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557253102	chr1:161329370-161329371	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193015455	chr1:161329379-161329380	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4634927	chr1:161329391-161329392	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs4474277	chr1:161329401-161329402	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs113165578	chr1:161329406-161329407	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573239869	chr1:161329461-161329462	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545124241	chr1:161329465-161329466	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4319356	chr1:161329474-161329475	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs76243812	chr1:161329521-161329522	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575273662	chr1:161329524-161329525	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200189246	chr1:161329531-161329532	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544206763	chr1:161329548-161329549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561372538	chr1:161329551-161329552	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145551814	chr1:161329562-161329563	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184577763	chr1:161329601-161329602	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188162094	chr1:161329617-161329618	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560767473	chr1:161329633-161329634	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114968701	chr1:161329661-161329662	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs386636100	chr1:161329681-161329682	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs55839314	chr1:161329682-161329683	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs143084040	chr1:161329705-161329706	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181389604	chr1:161329706-161329707	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs115139956	chr1:161329712-161329713	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs184088154	chr1:161329739-161329740	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200990012	chr1:161329792-161329793	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536582317	chr1:161329812-161329813	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34443836	chr1:161329819-161329820	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs61462029	chr1:161329822-161329823	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
34	rs200843971	chr1:161329823-161329824	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs397860247	chr1:161329833-161329834	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs35418568	chr1:161329919-161329920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs112943371	chr1:161330028-161330029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371658946	chr1:161330030-161330031	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371766431	chr1:161330044-161330045	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566704544	chr1:161330098-161330099	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189262184	chr1:161330172-161330173	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563765358	chr1:161330183-161330184	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs558584307	chr1:161330228-161330229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs55898518	chr1:161330241-161330242	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs534015588	chr1:161330312-161330313	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146232254	chr1:161330333-161330334	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs562207187	chr1:161330335-161330336	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs59037769	chr1:161330373-161330374	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs575012551	chr1:161330376-161330377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs55783815	chr1:161330419-161330420	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:108)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
2	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:161294200-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:161294200-161338200	Weak transcription	Small Intestine	intestine
5	chr1:161304600-161342600	Weak transcription	Esophagus	oesophagus
6	chr1:161304800-161329400	Weak transcription	Fetal Kidney	kidney
7	chr1:161304800-161334600	Weak transcription	Fetal Brain Male	brain
8	chr1:161305000-161337800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:161305400-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:161307400-161337600	Weak transcription	Psoas Muscle	Psoas
11	chr1:161307800-161333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:161310600-161333000	Weak transcription	HUVEC	blood vessel
13	chr1:161310600-161337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:161312600-161333000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:161312600-161335800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:161312600-161341200	Weak transcription	HMEC	breast
17	chr1:161313000-161333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:161313000-161333000	Weak transcription	Colonic Mucosa	Colon
19	chr1:161313000-161333200	Weak transcription	NHDF-Ad	bronchial
20	chr1:161313000-161337600	Weak transcription	Spleen	Spleen
21	chr1:161313000-161338400	Weak transcription	Pancreas	Pancrea
22	chr1:161313000-161341000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:161313000-161341200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:161313200-161333200	Weak transcription	HSMMtube	muscle
25	chr1:161313200-161334600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:161313200-161337600	Weak transcription	Right Ventricle	heart
27	chr1:161313400-161333000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:161313400-161334400	Weak transcription	K562	blood
29	chr1:161313400-161336000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:161313600-161329400	Weak transcription	Primary B cells from cord blood	blood
31	chr1:161313600-161333000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:161313600-161333000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:161315000-161333000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:161315000-161333000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:161315000-161335000	Weak transcription	A549	lung
36	chr1:161315200-161333200	Weak transcription	NH-A	brain
37	chr1:161315200-161336000	Weak transcription	GM12878-XiMat	blood
38	chr1:161317000-161333000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:161317000-161337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:161317200-161332400	Weak transcription	Left Ventricle	heart
41	chr1:161317200-161333000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:161317200-161333000	Weak transcription	Placenta	Placenta
43	chr1:161317200-161333000	Weak transcription	Osteobl	bone
44	chr1:161317200-161336000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:161317200-161338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:161317400-161333200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:161320600-161337000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:161321600-161329800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:161321600-161331800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:161321600-161333800	Weak transcription	Fetal Lung	lung

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