Variant report

Variant	nsv820819
Chromosome Location	chr1:161408548-161451156
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161128203..161130042-chr1:161408720..161410734,2	K562	blood:
2	chr1:161450943..161454043-chr1:161454575..161457732,3	K562	blood:
3	chr1:161446150..161448285-chr1:161450330..161452840,2	MCF-7	breast:
4	chr1:161352053..161353728-chr1:161407304..161409972,2	K562	blood:
5	chr1:161398543..161400305-chr1:161409223..161410860,2	K562	blood:
6	chr1:161395263..161401587-chr1:161405777..161411756,13	K562	blood:
7	chr1:161448695..161450202-chr1:161456413..161459104,2	K562	blood:
8	chr1:161449421..161451787-chr1:161709912..161712102,2	K562	blood:
9	chr1:161448492..161451596-chr1:161455751..161458370,3	K562	blood:
10	chr1:161406383..161407903-chr1:161408696..161410295,2	K562	blood:
11	chr1:161400311..161402101-chr1:161410173..161412002,2	K562	blood:
12	chr1:161450285..161452907-chr1:161452973..161454557,2	K562	blood:
13	chr1:161391094..161394225-chr1:161406445..161410510,3	K562	blood:
14	chr1:161172685..161175216-chr1:161409075..161411689,2	K562	blood:
15	chr1:161450195..161452340-chr1:161717842..161720012,2	MCF-7	breast:
16	chr1:161446150..161448285-chr1:161450330..161452840,2	MCF-7	breast:
17	chr1:161441922..161445226-chr1:161466780..161470505,3	K562	blood:
18	chr1:161369732..161370315-chr1:161409694..161410275,2	MCF-7	breast:
19	chr1:161354632..161358747-chr1:161408665..161411829,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081721	chromatin interactions
ENSG00000224985	chromatin interactions
ENSG00000143258	chromatin interactions

Extended variants
information (count: 750 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:750 , 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	rs183778740	chr1:161408555-161408556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12125079	chr1:161408556-161408557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs569145732	chr1:161408563-161408564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35656071	chr1:161408612-161408613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554453444	chr1:161408667-161408668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74124963	chr1:161408680-161408681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74124965	chr1:161408684-161408685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188046159	chr1:161408685-161408686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192269885	chr1:161408697-161408698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74124975	chr1:161408700-161408701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377081126	chr1:161408714-161408715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149860853	chr1:161408718-161408719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76647421	chr1:161408719-161408720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542543363	chr1:161408747-161408748	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562132574	chr1:161408749-161408750	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527932435	chr1:161408768-161408769	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541268502	chr1:161408785-161408786	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560255707	chr1:161408822-161408823	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368654566	chr1:161408832-161408833	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549931888	chr1:161408834-161408835	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75279847	chr1:161408835-161408836	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs398053462	chr1:161408845-161408846	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370134586	chr1:161408847-161408848	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371900716	chr1:161408872-161408873	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552181120	chr1:161408899-161408900	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs114906975	chr1:161408904-161408905	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145807962	chr1:161408905-161408906	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548513488	chr1:161408909-161408910	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs558252786	chr1:161408914-161408915	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148992999	chr1:161408915-161408916	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533944445	chr1:161408920-161408921	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553564477	chr1:161408955-161408956	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs183623316	chr1:161408998-161408999	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539571512	chr1:161409002-161409003	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188686858	chr1:161409012-161409013	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs74124976	chr1:161409023-161409024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs367895506	chr1:161409029-161409030	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs374785198	chr1:161409038-161409039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542155534	chr1:161409045-161409046	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555978859	chr1:161409070-161409071	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113987865	chr1:161409071-161409072	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541586725	chr1:161409094-161409095	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557023482	chr1:161409122-161409123	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191681638	chr1:161409129-161409130	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7412453	chr1:161409136-161409137	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74124977	chr1:161409143-161409144	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545962691	chr1:161409147-161409148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368375859	chr1:161409179-161409180	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs74124978	chr1:161409184-161409185	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs386636109	chr1:161409187-161409188	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

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
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	22522925	CNVD

Chromatin state (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161408400-161409000	Enhancers	HepG2	liver
2	chr1:161408800-161409200	Enhancers	K562	blood
3	chr1:161409000-161409200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
4	chr1:161409000-161409200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:161409000-161409200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
6	chr1:161409000-161409200	Enhancers	Hela-S3	cervix
7	chr1:161409000-161409600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:161409000-161409600	Bivalent Enhancer	HepG2	liver
9	chr1:161409000-161409800	Enhancers	Pancreas	Pancrea
10	chr1:161409000-161410000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:161409000-161410600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:161409200-161409400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
13	chr1:161409200-161409400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr1:161409200-161409400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:161409200-161409400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:161409200-161409400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:161409200-161409400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:161409200-161409400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:161409200-161409400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr1:161409200-161409400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:161409200-161409400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:161409200-161409400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr1:161409200-161409400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr1:161409200-161409400	Bivalent Enhancer	GM12878-XiMat	blood
25	chr1:161409200-161409400	Flanking Active TSS	Hela-S3	cervix
26	chr1:161409200-161409400	Enhancers	HMEC	breast
27	chr1:161409200-161409600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr1:161409200-161409600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr1:161409200-161409600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr1:161409200-161409600	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr1:161409200-161409600	Bivalent Enhancer	HUVEC	blood vessel
32	chr1:161409200-161409800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:161409200-161409800	Flanking Active TSS	A549	lung
34	chr1:161409200-161410000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr1:161409200-161410000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:161409200-161410000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr1:161409200-161410000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr1:161409200-161410000	Flanking Active TSS	K562	blood
39	chr1:161409200-161410200	Bivalent/Poised TSS	Fetal Kidney	kidney
40	chr1:161409200-161410200	Enhancers	Gastric	stomach
41	chr1:161409200-161410200	Enhancers	Spleen	Spleen
42	chr1:161409200-161410400	Bivalent Enhancer	Fetal Brain Male	brain
43	chr1:161409200-161410600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:161409400-161409600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:161409400-161409600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:161409400-161409600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:161409400-161409600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:161409400-161409600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:161409400-161409600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:161409400-161409600	Bivalent Enhancer	Primary B cells from cord blood	blood

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