Variant report

Variant	nsv572961
Chromosome Location	chr16:73091679-73092510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:185)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:73091578-73091755	HepG2	liver:	n/a	n/a
2	BACH1	chr16:73091594-73091724	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr16:73092227-73092436	GM12878	blood:	n/a	chr16:73092375-73092391 chr16:73092380-73092396
4	CHD1	chr16:73084743-73093728	IMR90	lung:	n/a	chr16:73092049-73092059 chr16:73091379-73091389 chr16:73092358-73092368 chr16:73091670-73091680 chr16:73087450-73087460 chr16:73087960-73087970
5	CHD2	chr16:73091365-73091797	Hela-S3	cervix:	n/a	chr16:73091379-73091389 chr16:73091670-73091680
6	CHD2	chr16:73092171-73092475	Hela-S3	cervix:	n/a	chr16:73092358-73092368
7	CREB1	chr16:73092132-73092481	A549	lung:	n/a	n/a
8	CTBP2	chr16:73091406-73091888	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr16:73092203-73092298	Pancreas_OC	pancreas:	n/a	chr16:73092285-73092298
10	CTCF	chr16:73092227-73092299	MCF-7	breast:	n/a	chr16:73092285-73092298
11	CTCF	chr16:73092210-73092460	IMR90	lung:	n/a	chr16:73092285-73092298
12	CTCF	chr16:73092260-73092410	AG09319	gingival:	n/a	chr16:73092285-73092298
13	CTCF	chr16:73092300-73092450	NHEK	skin:	n/a	n/a
14	CTCF	chr16:73091409-73091789	IMR90	lung:	n/a	n/a
15	CTCF	chr16:73091496-73091690	GM19238	blood:	n/a	n/a
16	CTCF	chr16:73092228-73092332	GM12891	blood:	n/a	chr16:73092285-73092298
17	CTCF	chr16:73091600-73091750	WI-38	lung:	n/a	n/a
18	CTCF	chr16:73091540-73091690	HEK293	kidney:	n/a	n/a
19	CTCF	chr16:73091567-73091711	GM19239	blood:	n/a	n/a
20	CTCF	chr16:73092200-73092350	HMEC	breast:	n/a	chr16:73092285-73092298
21	CTCF	chr16:73092290-73092331	GM19239	blood:	n/a	n/a
22	CTCF	chr16:73092242-73092290	ProgFib	skin:	n/a	n/a
23	CTCF	chr16:73092239-73092306	Fibrobl	skin:	n/a	chr16:73092285-73092298
24	CTCF	chr16:73091500-73091713	GM12891	blood:	n/a	n/a
25	CTCF	chr16:73091572-73091731	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr16:73091187-73092026	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr16:73092249-73092305	GM19238	blood:	n/a	chr16:73092285-73092298
28	CTCF	chr16:73091540-73091690	HepG2	liver:	n/a	n/a
29	CTCF	chr16:73091463-73091697	HepG2	liver:	n/a	n/a
30	CTCF	chr16:73091660-73091810	AG04449	skin:	n/a	n/a
31	CTCF	chr16:73091507-73091738	GM12892	blood:	n/a	n/a
32	CTCF	chr16:73092280-73092430	GM12866	blood:	n/a	chr16:73092285-73092298
33	CTCF	chr16:73091540-73091690	HMEC	breast:	n/a	n/a
34	CTCF	chr16:73092240-73092390	GM12865	blood:	n/a	chr16:73092285-73092298
35	CTCF	chr16:73091440-73091710	HCT-116	colon:	n/a	n/a
36	CTCF	chr16:73091429-73091798	GM12878	blood:	n/a	n/a
37	CTCF	chr16:73091506-73091686	GM19240	blood:	n/a	n/a
38	CTCF	chr16:73091403-73091717	HepG2	liver:	n/a	n/a
39	CTCF	chr16:73091540-73091690	HRE	kidney:	n/a	n/a
40	CTCF	chr16:73091540-73091690	HVMF	connective:	n/a	n/a
41	CTCF	chr16:73092320-73092470	GM12869	blood:	n/a	n/a
42	CTCF	chr16:73091520-73091704	MCF-7	breast:	n/a	n/a
43	CTCF	chr16:73091534-73091753	MCF-7	breast:	n/a	n/a
44	CTCF	chr16:73091518-73091686	Gliobla	brain:	n/a	n/a
45	CTCF	chr16:73091540-73091690	Caco-2	colon:	n/a	n/a
46	CTCF	chr16:73092201-73092316	GM10266	blood:	n/a	chr16:73092285-73092298
47	CTCF	chr16:73091540-73091690	BE2_C	brain:	n/a	n/a
48	CTCF	chr16:73092200-73092350	GM12870	blood:	n/a	chr16:73092285-73092298
49	CTCF	chr16:73091600-73091750	BE2_C	brain:	n/a	n/a
50	CTCF	chr16:73092153-73092412	GM12878	blood:	n/a	chr16:73092285-73092298

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:73092394-73092444	MCF-7	breast:	n/a
2	chr16:73091917-73091967	RPTEC	kidney:	n/a
3	chr16:73092394-73092444	MCF-7	breast:	n/a
4	chr16:73091917-73091967	RPTEC	kidney:	n/a
5	chr16:73092391-73092441	A549	lung:	n/a
6	chr16:73092394-73092444	NHBE	bronchial:	n/a
7	chr16:73092394-73092444	ECC-1	luminal epithelium:	n/a
8	chr16:73092394-73092444	HCT-116	colon:	n/a
9	chr16:73091917-73091967	NHDF-neo	bronchial:	n/a
10	chr16:73092391-73092441	HIPEpiC	eye:	n/a
11	chr16:73091917-73091967	MCF10A-Er-Src	breast:	n/a
12	chr16:73092391-73092441	HEEpiC	esophagus:	n/a
13	chr16:73091917-73091967	NHBE	bronchial:	n/a
14	chr16:73092394-73092444	HIPEpiC	eye:	n/a
15	chr16:73092391-73092441	PrEC	prostate:	n/a
16	chr16:73092391-73092441	NH-A	brain:	n/a
17	chr16:73092394-73092444	Hela-S3	cervix:	n/a
18	chr16:73092391-73092441	HPAEpiC	pulmonary alveolar:	n/a
19	chr16:73092391-73092441	T-47D	breast:	n/a
20	chr16:73091917-73091967	HNPCEpiC	eye:	n/a
21	chr16:73092394-73092444	MCF10A-Er-Src	breast:	n/a
22	chr16:73091917-73091967	MCF-7	breast:	n/a
23	chr16:73092394-73092444	Hepatocyte	liver:	n/a
24	chr16:73091917-73091967	AG10803	skin:	n/a
25	chr16:73092394-73092444	NH-A	brain:	n/a
26	chr16:73092391-73092441	HNPCEpiC	eye:	n/a
27	chr16:73092394-73092444	HRPEpiC	eye:	n/a
28	chr16:73092394-73092444	HRE	kidney:	n/a
29	chr16:73091917-73091967	A549	lung:	n/a
30	chr16:73091917-73091967	AG04450	lung:	fetal
31	chr16:73092391-73092441	HEK293	kidney:	embryo
32	chr16:73092391-73092441	ProgFib	skin:	n/a
33	chr16:73092391-73092441	Jurkat	blood:	n/a
34	chr16:73092394-73092444	GM19239	blood:	n/a
35	chr16:73091917-73091967	ProgFib	skin:	n/a
36	chr16:73092391-73092441	CMK	blood:	n/a
37	chr16:73091917-73091967	Hepatocyte	liver:	n/a
38	chr16:73092394-73092444	SK-N-SH_RA	brain:	n/a
39	chr16:73092394-73092444	NT2-D1	testis:	n/a
40	chr16:73091917-73091967	SKMC	muscle:	n/a
41	chr16:73091917-73091967	BE2_C	brain:	n/a
42	chr16:73092391-73092441	GM12891	blood:	n/a
43	chr16:73092391-73092441	HAEpiC	amniotic membrane:	n/a
44	chr16:73091917-73091967	PFSK-1	brain:	n/a
45	chr16:73092394-73092444	K562	blood:	n/a
46	chr16:73091917-73091967	GM12892	blood:	n/a
47	chr16:73092394-73092444	PFSK-1	brain:	n/a
48	chr16:73091917-73091967	GM12891	blood:	n/a
49	chr16:73092391-73092441	PFSK-1	brain:	n/a
50	chr16:73092391-73092441	Caco-2	colon:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
2	chr10:98346862..98347651-chr16:73091779..73092585,2	Hela-S3	cervix:
3	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
4	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
5	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
6	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
7	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
8	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
9	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
10	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
11	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
12	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
13	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
14	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
15	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
16	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
17	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
18	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
19	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
20	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
21	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:
22	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ENSG00000272250	CpG island
ENSG00000271009	CpG island
ENSG00000202077	chromatin interactions
ENSG00000261404	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000221799	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000103035	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000101608	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 71 )

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	rs558819908	chr16:73091685-73091686	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs570627166	chr16:73091705-73091706	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs375384356	chr16:73091737-73091738	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs555921199	chr16:73091740-73091741	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs574352916	chr16:73091745-73091746	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs541985052	chr16:73091847-73091848	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs184941562	chr16:73091920-73091921	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs544114435	chr16:73092162-73092163	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs563780064	chr16:73092174-73092175	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs573477081	chr16:73092176-73092177	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs540799739	chr16:73092215-73092216	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs142472889	chr16:73092220-73092221	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs532726232	chr16:73092222-73092223	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs190236458	chr16:73092257-73092258	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs562790031	chr16:73092376-73092377	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs532746572	chr16:73092380-73092381	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs530030455	chr16:73092386-73092387	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs548288914	chr16:73092390-73092391	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs566583259	chr16:73092394-73092395	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs527504892	chr16:73092397-73092398	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 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
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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73088200-73095200	Active TSS	Right Atrium	heart
3	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
4	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
5	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:73089400-73091800	Active TSS	Brain Anterior Caudate	brain
7	chr16:73089600-73093000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
9	chr16:73089800-73091800	Active TSS	Brain Substantia Nigra	brain
10	chr16:73089800-73091800	Active TSS	NHDF-Ad	bronchial
11	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
12	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
13	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
14	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
15	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:73090000-73094200	Active TSS	NHLF	lung
17	chr16:73090000-73095200	Active TSS	HSMM	muscle
18	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
19	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:73090400-73092000	Active TSS	Brain Angular Gyrus	brain
21	chr16:73090400-73093000	Active TSS	Placenta Amnion	Placenta Amnion
22	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:73090400-73093400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr16:73090400-73093600	Active TSS	Ovary	ovary
25	chr16:73090600-73092800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:73090800-73093000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr16:73090800-73093000	Active TSS	Hela-S3	cervix
28	chr16:73090800-73093200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr16:73090800-73093200	Active TSS	Fetal Intestine Large	intestine
30	chr16:73090800-73093400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:73090800-73093400	Active TSS	Duodenum Mucosa	Duodenum
32	chr16:73090800-73093400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr16:73090800-73093600	Active TSS	Colonic Mucosa	Colon
34	chr16:73090800-73093800	Active TSS	A549	lung
35	chr16:73090800-73094000	Active TSS	Stomach Smooth Muscle	stomach
36	chr16:73090800-73094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:73090800-73094200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr16:73090800-73094200	Active TSS	HSMMtube	muscle
39	chr16:73091000-73091800	Flanking Bivalent TSS/Enh	Dnd41	blood
40	chr16:73091000-73092400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:73091000-73093000	Active TSS	GM12878-XiMat	blood
42	chr16:73091000-73093200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:73091000-73093200	Active TSS	NH-A	brain
44	chr16:73091000-73093400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:73091000-73093400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:73091000-73093400	Active TSS	Fetal Intestine Small	intestine
47	chr16:73091000-73093400	Active TSS	Fetal Stomach	stomach
48	chr16:73091000-73094000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:73091000-73094200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr16:73091200-73091800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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