Variant report

Variant	nsv978005
Chromosome Location	chr16:81076943-81078535
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81068374..81070305-chr16:81075913..81077663,2	K562	blood:
2	chr16:81075103..81077247-chr16:81078361..81079890,2	MCF-7	breast:
3	chr16:81076994..81078531-chr16:81109945..81111784,2	K562	blood:
4	chr16:81076434..81078165-chr16:81078716..81082306,3	MCF-7	breast:
5	chr16:81071649..81074411-chr16:81077568..81081037,5	K562	blood:
6	chr16:81074762..81077123-chr16:81078708..81080321,2	K562	blood:
7	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
8	chr16:81069446..81072291-chr16:81077678..81081761,3	K562	blood:
9	chr16:81075103..81077247-chr16:81078361..81079890,2	MCF-7	breast:
10	chr16:81072851..81076497-chr16:81077627..81082197,6	K562	blood:
11	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166455	chromatin interactions
ENSG00000245059	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000103121	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202062165	chr16:81076945-81076946	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs147897268	chr16:81076959-81076960	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs17849653	chr16:81076970-81076971	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs2278023	chr16:81077016-81077017	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539236397	chr16:81077023-81077024	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs149138478	chr16:81077025-81077026	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs553978375	chr16:81077040-81077041	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs143600260	chr16:81077049-81077050	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs148070606	chr16:81077066-81077067	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs141724880	chr16:81077067-81077068	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs372470160	chr16:81077129-81077130	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs200444161	chr16:81077130-81077131	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs144337812	chr16:81077144-81077145	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs543006403	chr16:81077154-81077155	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs558643358	chr16:81077162-81077163	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs551010514	chr16:81077163-81077164	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs576833372	chr16:81077201-81077202	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs16954513	chr16:81077204-81077205	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs559616026	chr16:81077205-81077206	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs201714859	chr16:81077217-81077218	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs141595738	chr16:81077226-81077227	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs201996905	chr16:81077241-81077242	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs541781485	chr16:81077269-81077270	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs146214604	chr16:81077272-81077273	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs369180595	chr16:81077291-81077292	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs563397275	chr16:81077292-81077293	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs531751731	chr16:81077300-81077301	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs139034682	chr16:81077308-81077309	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs148782024	chr16:81077309-81077310	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs372731203	chr16:81077324-81077325	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs377206840	chr16:81077330-81077331	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs571600025	chr16:81077338-81077339	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs142330665	chr16:81077339-81077340	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs146825471	chr16:81077353-81077354	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs148804535	chr16:81077360-81077361	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs34105513	chr16:81077384-81077385	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536405406	chr16:81077389-81077390	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs575309700	chr16:81077429-81077430	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs371161001	chr16:81077441-81077442	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs373707982	chr16:81077444-81077445	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs545610956	chr16:81077451-81077452	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs370418609	chr16:81077484-81077485	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs147920959	chr16:81077485-81077486	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs202159810	chr16:81077510-81077511	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs35499342	chr16:81077514-81077515	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs35545248	chr16:81077537-81077538	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs140089425	chr16:81077567-81077568	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs570226600	chr16:81077568-81077569	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs537068234	chr16:81077605-81077606	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs145397957	chr16:81077607-81077608	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81070800-81081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:81071000-81079800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:81071200-81080400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:81071200-81080400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:81071200-81080600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr16:81071200-81082000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:81071200-81082400	Weak transcription	Stomach Mucosa	stomach
8	chr16:81071400-81079400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:81071400-81079600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr16:81071400-81079800	Strong transcription	Fetal Intestine Large	intestine
11	chr16:81071600-81080600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:81071800-81081800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:81072000-81079400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:81072200-81079400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:81072400-81079800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr16:81072800-81077800	Strong transcription	Hela-S3	cervix
17	chr16:81072800-81079000	Strong transcription	K562	blood
18	chr16:81073000-81079800	Strong transcription	Fetal Muscle Leg	muscle
19	chr16:81073600-81079800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:81073800-81078000	Strong transcription	Small Intestine	intestine
21	chr16:81073800-81079400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr16:81073800-81079800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:81073800-81079800	Strong transcription	Fetal Thymus	thymus
24	chr16:81073800-81079800	Strong transcription	Dnd41	blood
25	chr16:81074000-81079200	Strong transcription	Fetal Brain Male	brain
26	chr16:81074000-81079400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr16:81074000-81079400	Strong transcription	Lung	lung
28	chr16:81074000-81079400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr16:81074000-81079800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr16:81074000-81079800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:81074000-81080000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr16:81074000-81080400	Strong transcription	Primary B cells from cord blood	blood
33	chr16:81074000-81080400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr16:81074000-81082400	Weak transcription	Fetal Heart	heart
35	chr16:81074200-81079200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:81074200-81079400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:81074200-81079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:81074400-81077800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:81074400-81079400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:81074400-81079400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81074400-81079400	Strong transcription	HMEC	breast
42	chr16:81074400-81079400	Strong transcription	HUVEC	blood vessel
43	chr16:81074400-81079800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:81074400-81079800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr16:81074400-81079800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr16:81074400-81079800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:81074400-81079800	Strong transcription	Liver	Liver
48	chr16:81074400-81079800	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:81074400-81080000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:81074400-81080200	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links