Variant report

Variant	nsv977995
Chromosome Location	chr16:70400261-70404426
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	chr16:70402213..70405460-chr16:70405653..70409896,4	K562	blood:
2	chr16:70402621..70404136-chr16:70529533..70532181,2	K562	blood:
3	chr16:70401435..70404109-chr16:70556506..70558662,2	K562	blood:
4	chr16:70398049..70400170-chr16:70401389..70403852,4	MCF-7	breast:
5	chr16:70400513..70403701-chr16:70406827..70410088,3	MCF-7	breast:
6	chr16:70403865..70404598-chr16:70414555..70415060,2	MCF-7	breast:
7	chr16:70399401..70401287-chr16:70555885..70558751,2	MCF-7	breast:
8	chr16:70403494..70406143-chr16:70569820..70571486,2	K562	blood:
9	chr16:70403683..70405364-chr16:70556846..70558413,2	MCF-7	breast:
10	chr16:70403504..70406044-chr16:70486900..70491075,3	MCF-7	breast:
11	chr16:70403834..70405811-chr16:70505768..70508585,2	MCF-7	breast:
12	chr16:70404267..70407170-chr16:70413763..70415301,2	K562	blood:
13	chr16:70402213..70407234-chr16:70407266..70410953,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103051	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000157353	chromatin interactions
ENSG00000189091	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs184118150	chr16:70400268-70400269	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534563809	chr16:70400269-70400270	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553026012	chr16:70400312-70400313	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs578179991	chr16:70400317-70400318	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs8053167	chr16:70400333-70400334	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557519698	chr16:70400397-70400398	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138813561	chr16:70400400-70400401	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs542815077	chr16:70400413-70400414	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374806522	chr16:70400414-70400415	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188463504	chr16:70400422-70400423	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573019289	chr16:70400431-70400432	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540207402	chr16:70400439-70400440	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376358783	chr16:70400447-70400448	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572392087	chr16:70400463-70400464	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs367929194	chr16:70400476-70400477	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs200534875	chr16:70400494-70400495	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201935192	chr16:70400510-70400511	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375089852	chr16:70400511-70400512	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530677773	chr16:70400515-70400516	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372107108	chr16:70400521-70400522	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375391651	chr16:70400563-70400564	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549213517	chr16:70400581-70400582	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149391052	chr16:70400620-70400621	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139353819	chr16:70400635-70400636	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528223982	chr16:70400651-70400652	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142443034	chr16:70400656-70400657	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs529911319	chr16:70400694-70400695	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571192822	chr16:70400695-70400696	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs61755353	chr16:70400711-70400712	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539314354	chr16:70400715-70400716	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs145971582	chr16:70400736-70400737	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200086133	chr16:70400776-70400777	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569219815	chr16:70400782-70400783	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143648100	chr16:70400786-70400787	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28594881	chr16:70400795-70400796	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536415652	chr16:70400797-70400798	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373195615	chr16:70400808-70400809	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564655372	chr16:70400810-70400811	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572983130	chr16:70400849-70400850	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58055772	chr16:70400854-70400855	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs8058224	chr16:70400857-70400858	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs577216301	chr16:70400925-70400926	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35462868	chr16:70400926-70400927	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565739174	chr16:70400941-70400942	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs115815616	chr16:70400955-70400956	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs530848519	chr16:70400988-70400989	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs77377344	chr16:70401005-70401006	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561100753	chr16:70401039-70401040	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528182735	chr16:70401044-70401045	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181897668	chr16:70401054-70401055	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70381600-70413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:70382200-70413600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70382600-70413000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:70382800-70403600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:70382800-70409800	Strong transcription	Fetal Muscle Leg	muscle
7	chr16:70382800-70410800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:70382800-70410800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:70383000-70403600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:70383000-70410200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:70383000-70410600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:70383000-70410800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:70383000-70413000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:70383000-70413000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:70383000-70413000	Strong transcription	Fetal Thymus	thymus
16	chr16:70383200-70412200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:70383200-70413000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:70383200-70413400	Strong transcription	Fetal Stomach	stomach
19	chr16:70383400-70410600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:70383400-70411000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr16:70383400-70411000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:70383600-70407600	Strong transcription	HepG2	liver
23	chr16:70383600-70412200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:70383600-70413200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:70383600-70413400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr16:70383600-70413600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:70383800-70401000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:70383800-70410600	Strong transcription	Liver	Liver
29	chr16:70384200-70403600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:70384400-70411000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:70384400-70411400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:70384600-70413400	Strong transcription	Fetal Intestine Small	intestine
33	chr16:70385200-70403600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr16:70385200-70407600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:70385200-70410800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr16:70385200-70410800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr16:70385400-70410200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:70385600-70403600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr16:70385600-70407800	Strong transcription	Brain Anterior Caudate	brain
40	chr16:70385600-70410400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr16:70385800-70401200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:70385800-70410200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr16:70386000-70413400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:70386200-70410400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:70387800-70401200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:70387800-70414000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr16:70388400-70402600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr16:70388400-70402600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:70388400-70402600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr16:70388400-70407000	Strong transcription	Fetal Brain Female	brain

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