Variant report

Variant	nsv528905
Chromosome Location	chr16:69829875-69830328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:69830296-69830713	K562	blood:	n/a	n/a
2	BRCA1	chr16:69830215-69830756	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr16:69830229-69830693	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr16:69830060-69830210	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr16:69830295-69830335	GM19238	blood:	n/a	n/a
6	CTCF	chr16:69830160-69830310	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr16:69829879-69831279	A549	lung:	n/a	chr16:69830589-69830599 chr16:69830584-69830602 chr16:69831014-69831023 chr16:69830587-69830596 chr16:69830586-69830607
8	CTCF	chr16:69830251-69830397	MCF-7	breast:	n/a	n/a
9	CTCF	chr16:69830260-69830410	GM12878	blood:	n/a	n/a
10	CTCF	chr16:69830311-69830804	HCT-116	colon:	n/a	chr16:69830589-69830599 chr16:69830584-69830602 chr16:69830587-69830596 chr16:69830586-69830607
11	CTCF	chr16:69830220-69830370	HCFaa	heart:	n/a	n/a
12	CTCF	chr16:69830259-69830857	HCT-116	colon:	n/a	chr16:69830589-69830599 chr16:69830584-69830602 chr16:69830587-69830596 chr16:69830586-69830607
13	CTCF	chr16:69830240-69830390	NHEK	skin:	n/a	n/a
14	CTCF	chr16:69830140-69830290	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr16:69830280-69830282	K562	blood:	n/a	n/a
16	CTCF	chr16:69830286-69830324	NHEK	skin:	n/a	n/a
17	CTCF	chr16:69830273-69830349	GM12892	blood:	n/a	n/a
18	CTCF	chr16:69830240-69830328	GM12878	blood:	n/a	n/a
19	CTCF	chr16:69830271-69830741	MCF-7	breast:	n/a	chr16:69830589-69830599 chr16:69830584-69830602 chr16:69830587-69830596 chr16:69830586-69830607
20	CTCF	chr16:69830259-69830330	GM10248	blood:	n/a	n/a
21	CTCF	chr16:69830223-69830364	GM19239	blood:	n/a	n/a
22	CTCF	chr16:69829934-69831562	SK-N-SH	brain:	n/a	chr16:69830589-69830599 chr16:69830584-69830602 chr16:69831014-69831023 chr16:69830587-69830596 chr16:69830586-69830607
23	CTCF	chr16:69830160-69830310	HFF	foreskin:	n/a	n/a
24	CTCF	chr16:69830261-69830293	Lung_OC	lung:	n/a	n/a
25	CTCF	chr16:69830140-69830290	AG10803	skin:	n/a	n/a
26	CTCF	chr16:69830298-69830330	GM19240	blood:	n/a	n/a
27	CTCF	chr16:69830040-69830190	NB4	blood:	n/a	n/a
28	CTCF	chr16:69830320-69830470	SAEC	small airway:	n/a	n/a
29	EP300	chr16:69830177-69830631	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr16:69830112-69830734	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr16:69830262-69830708	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr16:69830321-69830348	MCF-7	breast:	n/a	n/a
33	RAD21	chr16:69830271-69830901	ECC-1	luminal epithelium:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
34	RAD21	chr16:69830325-69830801	ECC-1	luminal epithelium:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
35	RAD21	chr16:69830327-69830818	SK-N-SH_RA	brain:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
36	RAD21	chr16:69830211-69830931	HCT-116	colon:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
37	RAD21	chr16:69830261-69830846	HCT-116	colon:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
38	RAD21	chr16:69830308-69830843	H1-hESC	embryonic stem cell:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
39	RAD21	chr16:69830305-69830889	H1-hESC	embryonic stem cell:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
40	RAD21	chr16:69830038-69831181	SK-N-SH	brain:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
41	RAD21	chr16:69830119-69830995	A549	lung:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
42	RAD21	chr16:69830242-69830861	HepG2	liver:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
43	RAD21	chr16:69830295-69831026	HepG2	liver:	n/a	chr16:69830586-69830595 chr16:69830585-69830604
44	SMC3	chr16:69830195-69830957	HepG2	liver:	n/a	chr16:69830586-69830600 chr16:69830586-69830594
45	SMC3	chr16:69830057-69831495	SK-N-SH	brain:	n/a	chr16:69830586-69830600 chr16:69830586-69830594
46	SP1	chr16:69830033-69830768	A549	lung:	n/a	n/a
47	SP1	chr16:69830181-69830667	H1-hESC	embryonic stem cell:	n/a	n/a
48	SP1	chr16:69830129-69830729	A549	lung:	n/a	n/a
49	SP4	chr16:69830269-69830832	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr16:69830243-69830552	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:69830266..69831089-chr16:69963742..69964770,3	MCF-7	breast:
2	chr16:69830098..69830907-chr16:69893613..69894173,2	MCF-7	breast:
3	chr16:69830118..69831108-chr16:69893111..69894248,7	MCF-7	breast:
4	chr16:69830100..69831154-chr16:69963741..69964711,6	K562	blood:
5	chr16:69818416..69821384-chr16:69829195..69831869,2	K562	blood:
6	chr16:69730776..69732445-chr16:69829537..69832093,2	K562	blood:

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

Extended variants
information (count: 20 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4985547	chr16:69829875-69829876	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62050041	chr16:69829907-69829908	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs72783183	chr16:69829920-69829921	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs80121670	chr16:69829936-69829937	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115717950	chr16:69829940-69829941	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs75639409	chr16:69829971-69829972	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560924399	chr16:69830007-69830008	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536757564	chr16:69830052-69830053	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs375342690	chr16:69830065-69830066	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs76614752	chr16:69830109-69830110	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs77517847	chr16:69830117-69830118	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs571937438	chr16:69830124-69830125	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188944925	chr16:69830144-69830145	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs557635215	chr16:69830160-69830161	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376665756	chr16:69830163-69830164	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145994951	chr16:69830165-69830166	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538496161	chr16:69830310-69830311	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs530322671	chr16:69830317-69830318	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs561732765	chr16:69830318-69830319	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs6499255	chr16:69830328-69830329	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease

Variant related diseases (count:72)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
3	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:69807000-69830200	Weak transcription	NHDF-Ad	bronchial
6	chr16:69807000-69832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:69807200-69830200	Weak transcription	Osteobl	bone
8	chr16:69807200-69832600	Weak transcription	NHLF	lung
9	chr16:69807200-69832800	Weak transcription	Pancreas	Pancrea
10	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
12	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
13	chr16:69808000-69833200	Weak transcription	HSMM	muscle
14	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
15	chr16:69810200-69831000	Weak transcription	NHEK	skin
16	chr16:69810200-69833400	Weak transcription	Dnd41	blood
17	chr16:69810400-69830200	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:69810400-69830200	Weak transcription	A549	lung
19	chr16:69815200-69830000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:69815200-69830200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:69815200-69833400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:69815400-69830200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:69817800-69854600	Weak transcription	HMEC	breast
24	chr16:69818600-69830200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:69820200-69845000	Weak transcription	K562	blood
26	chr16:69820600-69830000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr16:69822200-69830200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:69822200-69830200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:69822200-69833000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr16:69822400-69830200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:69822400-69832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:69822400-69833000	Weak transcription	HSMMtube	muscle
33	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
34	chr16:69822600-69830200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr16:69822600-69830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:69822600-69830200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:69822600-69830200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:69822600-69830200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:69822600-69833000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:69822600-69833200	Weak transcription	Small Intestine	intestine
41	chr16:69822800-69830200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:69822800-69830200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:69822800-69830200	Weak transcription	Fetal Kidney	kidney
44	chr16:69822800-69830200	Weak transcription	NH-A	brain
45	chr16:69822800-69830400	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:69822800-69832600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:69823000-69830200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:69823000-69830200	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:69823000-69830200	Weak transcription	Fetal Lung	lung
50	chr16:69823000-69830200	Weak transcription	Rectal Smooth Muscle	rectum

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