Variant report

Variant	nsv572538
Chromosome Location	chr16:48415611-48419259
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48277094..48279506-chr16:48417848..48419466,2	K562	blood:
2	chr16:48411748..48415998-chr16:48416243..48420831,11	K562	blood:
3	chr16:2013351..2015357-chr16:48417776..48419360,2	MCF-7	breast:
4	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
5	chr16:48399845..48400801-chr16:48418367..48419048,2	Hela-S3	cervix:
6	chr16:48418738..48419529-chr16:89626613..89627546,2	Hela-S3	cervix:
7	chr16:48418761..48419469-chr22:42228810..42229760,2	Hela-S3	cervix:
8	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
9	chr16:48398562..48401765-chr16:48412536..48415889,3	MCF-7	breast:
10	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
11	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
12	chr16:48411112..48415935-chr16:48417584..48420654,6	MCF-7	breast:
13	chr1:153508413..153509221-chr16:48418944..48419933,2	Hela-S3	cervix:
14	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
15	chr16:48406348..48408797-chr16:48412397..48415717,4	MCF-7	breast:
16	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
17	chr16:48416397..48419006-chr16:48635531..48637181,2	K562	blood:
18	chr16:48419190..48419723-chr20:30194517..30195068,2	HCT-116	colon:
19	chr12:7261155..7261904-chr16:48418914..48419874,2	Hela-S3	cervix:
20	chr15:85291369..85292229-chr16:48418740..48419424,2	Hela-S3	cervix:
21	chr16:48392029..48394915-chr16:48416777..48418892,2	MCF-7	breast:
22	chr10:35284036..35284536-chr16:48418817..48419320,2	NB4	blood:
23	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:
24	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
25	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
26	chr16:48380431..48382791-chr16:48417861..48420626,2	K562	blood:
27	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:
28	chr1:212208566..212209259-chr16:48419035..48419960,2	Hela-S3	cervix:
29	chr16:48367808..48369426-chr16:48417936..48419640,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255198	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000102910	chromatin interactions
ENSG00000166716	chromatin interactions
ENSG00000240793	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000205885	chromatin interactions
ENSG00000139178	chromatin interactions
ENSG00000198911	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000196470	chromatin interactions
ENSG00000121270	chromatin interactions
ENSG00000102921	chromatin interactions
ENSG00000255513	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000143493	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6500385	chr16:48415611-48415612	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186201293	chr16:48415624-48415625	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376134813	chr16:48415634-48415635	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142840367	chr16:48415644-48415645	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189265215	chr16:48415646-48415647	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533857557	chr16:48415647-48415648	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562465608	chr16:48415714-48415715	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs151033633	chr16:48415727-48415728	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546306820	chr16:48415825-48415826	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547984070	chr16:48415828-48415829	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4785517	chr16:48415862-48415863	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547555107	chr16:48415895-48415896	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570684909	chr16:48415914-48415915	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181816999	chr16:48415940-48415941	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140438377	chr16:48415959-48415960	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569726328	chr16:48415973-48415974	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145533701	chr16:48416016-48416017	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115857049	chr16:48416056-48416057	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572467540	chr16:48416062-48416063	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375760593	chr16:48416063-48416064	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372285363	chr16:48416108-48416109	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370161930	chr16:48416225-48416226	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558307056	chr16:48416253-48416254	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs578261293	chr16:48416292-48416293	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571065941	chr16:48416332-48416333	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541009706	chr16:48416356-48416357	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557646547	chr16:48416426-48416427	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559609132	chr16:48416451-48416452	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576129806	chr16:48416479-48416480	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376560636	chr16:48416519-48416520	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs80262770	chr16:48416535-48416536	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561668008	chr16:48416547-48416548	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs72802177	chr16:48416557-48416558	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540917474	chr16:48416593-48416594	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542288250	chr16:48416605-48416606	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373505962	chr16:48416611-48416612	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73550078	chr16:48416639-48416640	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532925265	chr16:48416650-48416651	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548005461	chr16:48416687-48416688	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141023214	chr16:48416709-48416710	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150128691	chr16:48416816-48416817	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547559906	chr16:48416832-48416833	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549341789	chr16:48416870-48416871	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566067605	chr16:48416900-48416901	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs535113175	chr16:48416901-48416902	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs138557633	chr16:48416974-48416975	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs60256696	chr16:48416977-48416978	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114376466	chr16:48416989-48416990	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557703574	chr16:48417080-48417081	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535484564	chr16:48417108-48417109	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400600-48417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48404800-48417200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr16:48406400-48416800	Enhancers	Liver	Liver
5	chr16:48406600-48417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:48407800-48417200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:48408000-48416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:48409000-48417000	Weak transcription	Fetal Kidney	kidney
9	chr16:48409000-48417200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:48409200-48416800	Weak transcription	NHDF-Ad	bronchial
11	chr16:48409200-48417000	Weak transcription	NHLF	lung
12	chr16:48409200-48417200	Weak transcription	NH-A	brain
13	chr16:48409200-48417200	Weak transcription	Osteobl	bone
14	chr16:48409400-48416800	Weak transcription	HUVEC	blood vessel
15	chr16:48409400-48417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:48410400-48417600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr16:48411400-48416200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr16:48411600-48416200	Enhancers	Placenta	Placenta
19	chr16:48411600-48416400	Weak transcription	HSMM	muscle
20	chr16:48411600-48417400	Enhancers	Primary B cells from cord blood	blood
21	chr16:48411800-48417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:48412000-48416800	Enhancers	HepG2	liver
23	chr16:48412000-48417000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr16:48412200-48416600	Enhancers	A549	lung
25	chr16:48412200-48416600	Enhancers	K562	blood
26	chr16:48412400-48416000	Enhancers	Brain Cingulate Gyrus	brain
27	chr16:48412400-48416000	Enhancers	Brain Hippocampus Middle	brain
28	chr16:48412400-48416200	Enhancers	Primary B cells from peripheral blood	blood
29	chr16:48412600-48415800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr16:48412600-48416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr16:48412600-48416200	Enhancers	Ovary	ovary
32	chr16:48412600-48416200	Enhancers	Pancreas	Pancrea
33	chr16:48412600-48416200	Enhancers	Right Ventricle	heart
34	chr16:48412600-48416400	Enhancers	Left Ventricle	heart
35	chr16:48412600-48416800	Enhancers	Duodenum Mucosa	Duodenum
36	chr16:48413000-48417200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:48413200-48417800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:48413400-48416400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:48413400-48416800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:48413400-48417200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr16:48413400-48417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:48413400-48417400	Weak transcription	Colonic Mucosa	Colon
43	chr16:48413400-48417600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr16:48413400-48417600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:48413600-48416400	Enhancers	Lung	lung
46	chr16:48413600-48417200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:48413600-48417200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:48413800-48415800	Weak transcription	Brain Germinal Matrix	brain
49	chr16:48413800-48416200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:48413800-48416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links