Variant report

Variant	nsv960355
Chromosome Location	chr16:69901844-69907446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:69904240-69904390	HVMF	connective:	n/a	n/a
2	CTCF	chr16:69904260-69904410	GM12872	blood:	n/a	n/a
3	CTCF	chr16:69904200-69904350	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr16:69904200-69904350	GM12873	blood:	n/a	n/a
5	CTCF	chr16:69904220-69904370	GM12874	blood:	n/a	n/a
6	CTCF	chr16:69904220-69904370	GM06990	blood:	n/a	n/a
7	CTCF	chr16:69904240-69904390	GM12866	blood:	n/a	n/a
8	CTCF	chr16:69904240-69904390	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr16:69904140-69904290	HEK293	kidney:	n/a	n/a
10	CTCF	chr16:69904240-69904390	K562	blood:	n/a	n/a
11	CTCF	chr16:69904240-69904390	HEK293	kidney:	n/a	n/a
12	CTCF	chr16:69904260-69904410	BE2_C	brain:	n/a	n/a
13	CTCF	chr16:69904180-69904330	GM12864	blood:	n/a	n/a
14	CTCF	chr16:69904220-69904370	GM12872	blood:	n/a	n/a
15	CTCF	chr16:69904220-69904370	HRE	kidney:	n/a	n/a
16	CTCF	chr16:69904220-69904370	NHEK	skin:	n/a	n/a
17	CTCF	chr16:69904580-69904730	NHEK	skin:	n/a	n/a
18	CTCF	chr16:69904160-69904310	AG09309	skin:	n/a	n/a
19	CTCF	chr16:69904240-69904390	A549	lung:	n/a	n/a
20	CTCF	chr16:69904760-69904910	BE2_C	brain:	n/a	n/a
21	CTCF	chr16:69904220-69904370	GM12864	blood:	n/a	n/a
22	CTCF	chr16:69904220-69904370	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr16:69904220-69904370	GM12873	blood:	n/a	n/a
24	CTCF	chr16:69904240-69904390	Caco-2	colon:	n/a	n/a
25	CTCF	chr16:69904260-69904410	HAc	cerebellar:	n/a	n/a
26	CTCF	chr16:69904220-69904370	HCFaa	heart:	n/a	n/a
27	CTCF	chr16:69904240-69904390	HepG2	liver:	n/a	n/a
28	CTCF	chr16:69904220-69904370	SAEC	small airway:	n/a	n/a
29	CTCF	chr16:69904260-69904410	GM12868	blood:	n/a	n/a
30	CTCF	chr16:69904220-69904370	HCT-116	colon:	n/a	n/a
31	CTCF	chr16:69904320-69904470	GM12873	blood:	n/a	n/a
32	CTCF	chr16:69904220-69904370	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr16:69904240-69904390	GM12875	blood:	n/a	n/a
34	CTCF	chr16:69904240-69904390	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr16:69905102-69905184	GM13976	blood:	n/a	n/a
36	CTCF	chr16:69904260-69904410	GM12866	blood:	n/a	n/a
37	FOS	chr16:69904839-69904927	MCF10A-Er-Src	breast:	n/a	chr16:69904874-69904884 chr16:69904855-69904864 chr16:69904875-69904883 chr16:69904876-69904883
38	MAFK	chr16:69904777-69904972	IMR90	lung:	n/a	chr16:69904873-69904883 chr16:69904873-69904882
39	STAT3	chr16:69905148-69905216	MCF10A-Er-Src	breast:	n/a	n/a
40	USF2	chr16:69907101-69907149	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF143	chr16:69902272-69902471	H1-hESC	embryonic stem cell:	n/a	chr16:69902409-69902427

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69819983..69822871-chr16:69902631..69905244,2	K562	blood:
2	chr16:69906020..69907607-chr16:69913429..69915841,2	MCF-7	breast:

No data

Variant related genes	Relation type
WWP2	TF binding region
ENSG00000252443	chromatin interactions
ENSG00000198373	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72785029	chr16:69901849-69901850	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1500337	chr16:69901884-69901885	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs544802636	chr16:69901932-69901933	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563285719	chr16:69902037-69902038	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367952800	chr16:69902107-69902108	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376424183	chr16:69902108-69902109	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565545218	chr16:69902109-69902110	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3790080	chr16:69902139-69902140	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542507229	chr16:69902141-69902142	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560959179	chr16:69902192-69902193	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141085881	chr16:69902202-69902203	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564950401	chr16:69902216-69902217	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532800673	chr16:69902236-69902237	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9934928	chr16:69902256-69902257	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569312084	chr16:69902267-69902268	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150275349	chr16:69902359-69902360	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548565230	chr16:69902364-69902365	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566890795	chr16:69902425-69902426	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs137862538	chr16:69902431-69902432	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558671588	chr16:69902452-69902453	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs374023156	chr16:69902536-69902537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369351189	chr16:69902565-69902566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74029723	chr16:69902566-69902567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537905629	chr16:69902568-69902569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs398058352	chr16:69902589-69902590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2362637	chr16:69902591-69902592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2885566	chr16:69902595-69902596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2885567	chr16:69902597-69902598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2362638	chr16:69902601-69902602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556737622	chr16:69902691-69902692	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28651196	chr16:69902747-69902748	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542926217	chr16:69902750-69902751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149034347	chr16:69902813-69902814	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549855901	chr16:69902819-69902820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375624215	chr16:69902842-69902843	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537175373	chr16:69902843-69902844	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572825078	chr16:69902850-69902851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1116544	chr16:69902851-69902852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs138585070	chr16:69902860-69902861	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184827762	chr16:69902869-69902870	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs8060478	chr16:69902870-69902871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563112315	chr16:69902883-69902884	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146237446	chr16:69902911-69902912	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548891416	chr16:69902922-69902923	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189598783	chr16:69902937-69902938	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115528080	chr16:69902940-69902941	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs138051944	chr16:69903026-69903027	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533822457	chr16:69903042-69903043	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537973729	chr16:69903057-69903058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556350395	chr16:69903081-69903082	Weak transcription Strong transcription	Chromatin interactive region	2 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
Thoracic aortic aneurysm	21092924	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
Breast cancer	21611746	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
Schizophrenia	23813976	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:69874000-69905800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:69876000-69904400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:69876000-69905800	Weak transcription	Dnd41	blood
6	chr16:69876200-69905800	Weak transcription	Brain Germinal Matrix	brain
7	chr16:69883400-69903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:69883600-69904400	Weak transcription	HMEC	breast
9	chr16:69888000-69905600	Weak transcription	Gastric	stomach
10	chr16:69889600-69905600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:69890400-69923400	Weak transcription	HUVEC	blood vessel
12	chr16:69892600-69905400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:69893000-69906800	Weak transcription	GM12878-XiMat	blood
14	chr16:69893000-69907000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
16	chr16:69893200-69903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:69893200-69904600	Weak transcription	NHEK	skin
18	chr16:69893200-69906400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:69893200-69923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr16:69893400-69905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:69893400-69906400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:69893600-69905600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:69893600-69910600	Weak transcription	A549	lung
24	chr16:69894200-69903800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr16:69895200-69905600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:69895400-69905600	Weak transcription	Aorta	Aorta
27	chr16:69895600-69906200	Weak transcription	Fetal Brain Female	brain
28	chr16:69895800-69907000	Weak transcription	Small Intestine	intestine
29	chr16:69896000-69903800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:69896000-69905600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:69896000-69905800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:69896000-69906200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:69896000-69906400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr16:69896000-69906400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:69896000-69909400	Weak transcription	Fetal Kidney	kidney
36	chr16:69896200-69905000	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:69896200-69905400	Weak transcription	Brain Angular Gyrus	brain
38	chr16:69896200-69905600	Weak transcription	Brain Anterior Caudate	brain
39	chr16:69896400-69905800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:69896400-69906600	Weak transcription	Stomach Mucosa	stomach
41	chr16:69896400-69910000	Weak transcription	Fetal Lung	lung
42	chr16:69896600-69904800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr16:69896600-69905400	Weak transcription	Brain Substantia Nigra	brain
44	chr16:69896600-69905600	Weak transcription	Adipose Nuclei	Adipose
45	chr16:69896600-69905600	Weak transcription	Lung	lung
46	chr16:69896600-69905600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:69896600-69905600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr16:69896600-69905600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:69896600-69906600	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:69896600-69909200	Strong transcription	Fetal Intestine Small	intestine

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