Variant report

Variant	nsv103692
Chromosome Location	chr16:30820490-30824117
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30822842..30825891-chr16:30913265..30916263,3	K562	blood:
2	chr16:30823105..30825979-chr16:30905846..30907533,2	K562	blood:
3	chr16:30816754..30818389-chr16:30819139..30820752,2	MCF-7	breast:
4	chr16:30823017..30826928-chr16:30884539..30888013,5	MCF-7	breast:
5	chr16:30758334..30762077-chr16:30822786..30826523,3	K562	blood:
6	chr16:30817154..30820688-chr16:30821822..30825737,4	K562	blood:
7	chr16:30817154..30820874-chr16:30824178..30827493,4	K562	blood:
8	chr16:30785759..30789223-chr16:30822658..30825886,4	K562	blood:
9	chr16:30795066..30800356-chr16:30815303..30822232,38	MCF-7	breast:
10	chr16:30822915..30826127-chr16:30884050..30887652,3	K562	blood:
11	chr16:30822915..30827124-chr16:30884050..30889894,6	K562	blood:
12	chr16:30817154..30820688-chr16:30821822..30825737,4	K562	blood:
13	chr16:30815583..30820055-chr16:30823103..30827035,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099385	chromatin interactions
ENSG00000262721	chromatin interactions
ENSG00000265991	chromatin interactions
ENSG00000102870	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000156873	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568793566	chr16:30820511-30820512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536193021	chr16:30820542-30820543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139918867	chr16:30820544-30820545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189332428	chr16:30820565-30820566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143900789	chr16:30820566-30820567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576479830	chr16:30820594-30820595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs180936710	chr16:30820622-30820623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533719693	chr16:30820701-30820702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs8047743	chr16:30820708-30820709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6565203	chr16:30820774-30820775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544650104	chr16:30820775-30820776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6565204	chr16:30820828-30820829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62057232	chr16:30820866-30820867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368087965	chr16:30820935-30820936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11641708	chr16:30821000-30821001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11640628	chr16:30821007-30821008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186160418	chr16:30821014-30821015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11645228	chr16:30821015-30821016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191501565	chr16:30821196-30821197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182757314	chr16:30821218-30821219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57728711	chr16:30821279-30821280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs57476254	chr16:30821290-30821291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs57013363	chr16:30821316-30821317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532116836	chr16:30821324-30821325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57264380	chr16:30821325-30821326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59597478	chr16:30821345-30821346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61517711	chr16:30821368-30821369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148747975	chr16:30821382-30821383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs60162040	chr16:30821385-30821386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60224732	chr16:30821397-30821398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61404050	chr16:30821404-30821405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs59842243	chr16:30821418-30821419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568806333	chr16:30821455-30821456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529669849	chr16:30821471-30821472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62057233	chr16:30821486-30821487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs151255699	chr16:30821505-30821506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78919772	chr16:30821508-30821509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558134653	chr16:30821558-30821559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537026888	chr16:30821562-30821563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201749881	chr16:30821581-30821582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553139146	chr16:30821582-30821583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545232055	chr16:30821648-30821649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185991673	chr16:30821666-30821667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572336902	chr16:30821734-30821735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375242532	chr16:30821742-30821743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551953717	chr16:30821785-30821786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570273897	chr16:30821820-30821821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542477772	chr16:30821826-30821827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537997491	chr16:30821840-30821841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556618171	chr16:30821874-30821875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30817800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:30818000-30823000	Weak transcription	Fetal Brain Female	brain
3	chr16:30818000-30825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr16:30818000-30825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:30818000-30825000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:30818000-30825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:30818000-30825400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:30818200-30825000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:30818200-30825000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:30818200-30825000	Weak transcription	Adipose Nuclei	Adipose
11	chr16:30818200-30825000	Weak transcription	Brain Anterior Caudate	brain
12	chr16:30818200-30825000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:30818200-30825000	Weak transcription	A549	lung
14	chr16:30818200-30825000	Weak transcription	GM12878-XiMat	blood
15	chr16:30818200-30825000	Weak transcription	HMEC	breast
16	chr16:30818200-30825200	Weak transcription	Hela-S3	cervix
17	chr16:30818200-30825400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:30818400-30825000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:30818600-30825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:30818800-30821600	Enhancers	HepG2	liver
21	chr16:30818800-30824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:30818800-30824000	Weak transcription	Primary B cells from cord blood	blood
23	chr16:30818800-30824200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr16:30818800-30825000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:30818800-30825000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:30818800-30825000	Weak transcription	Liver	Liver
27	chr16:30818800-30825000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:30818800-30825200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:30818800-30825200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:30818800-30825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:30818800-30825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:30818800-30825200	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:30818800-30825200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:30818800-30825200	Weak transcription	Osteobl	bone
35	chr16:30818800-30825400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:30819000-30824400	Weak transcription	Fetal Intestine Large	intestine
37	chr16:30819000-30824600	Weak transcription	Placenta	Placenta
38	chr16:30819000-30825000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:30819000-30825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:30819000-30825200	Weak transcription	Brain Angular Gyrus	brain
41	chr16:30819000-30825200	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:30819000-30825200	Weak transcription	Fetal Heart	heart
43	chr16:30819000-30825200	Weak transcription	Fetal Muscle Leg	muscle
44	chr16:30819000-30825200	Weak transcription	Fetal Stomach	stomach
45	chr16:30819000-30825200	Weak transcription	NHDF-Ad	bronchial
46	chr16:30819600-30821000	Enhancers	K562	blood
47	chr16:30820000-30821000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr16:30820200-30824000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr16:30820200-30825000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:30820400-30823400	Weak transcription	Primary monocytes fromperipheralblood	blood

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