Variant report

Variant	nsv524334
Chromosome Location	chr16:76169731-76197034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:76172099-76172368	MCF-7	breast:	n/a	n/a
2	CEBPB	chr16:76190493-76190837	IMR90	lung:	n/a	n/a
3	CEBPB	chr16:76190511-76190776	A549	lung:	n/a	n/a
4	CEBPB	chr16:76190498-76190826	HepG2	liver:	n/a	n/a
5	CHD2	chr16:76191853-76191884	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr16:76191700-76191850	GM12873	blood:	n/a	n/a
7	CTCF	chr16:76191684-76191687	K562	blood:	n/a	n/a
8	CTCF	chr16:76191580-76191730	GM12872	blood:	n/a	n/a
9	CTCF	chr16:76191600-76191750	GM12873	blood:	n/a	n/a
10	CTCF	chr16:76191589-76191903	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr16:76191740-76191890	HMEC	breast:	n/a	n/a
12	CTCF	chr16:76191629-76191759	LNCaP	prostate:	n/a	n/a
13	CTCF	chr16:76191700-76191850	NHEK	skin:	n/a	n/a
14	CTCF	chr16:76191620-76191795	MCF-7	breast:	n/a	n/a
15	CTCF	chr16:76191654-76191727	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr16:76191600-76191750	GM12864	blood:	n/a	n/a
17	CTCF	chr16:76191656-76191704	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr16:76191660-76191810	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr16:76191600-76191750	GM06990	blood:	n/a	n/a
20	CTCF	chr16:76191600-76191750	GM12869	blood:	n/a	n/a
21	CTCF	chr16:76191517-76191837	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr16:76191620-76191770	GM12873	blood:	n/a	n/a
23	CTCF	chr16:76191649-76191761	GM12878	blood:	n/a	n/a
24	CTCF	chr16:76191620-76191770	HepG2	liver:	n/a	n/a
25	CTCF	chr16:76191600-76191750	Caco-2	colon:	n/a	n/a
26	CTCF	chr16:76191640-76191790	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr16:76191860-76192010	HCFaa	heart:	n/a	n/a
28	CTCF	chr16:76191560-76191710	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr16:76191580-76191730	MCF-7	breast:	n/a	n/a
30	CTCF	chr16:76191680-76191830	GM12875	blood:	n/a	n/a
31	CTCF	chr16:76174386-76174441	GM20000	blood:	n/a	n/a
32	CTCF	chr16:76191620-76191770	GM12871	blood:	n/a	n/a
33	CTCF	chr16:76191597-76191759	HepG2	liver:	n/a	n/a
34	CTCF	chr16:76191660-76191810	Caco-2	colon:	n/a	n/a
35	CTCF	chr16:76191627-76191863	GM12878	blood:	n/a	n/a
36	CTCF	chr16:76191620-76191770	GM12866	blood:	n/a	n/a
37	CTCF	chr16:76191652-76191777	HepG2	liver:	n/a	n/a
38	CTCF	chr16:76191640-76191790	HMEC	breast:	n/a	n/a
39	CTCF	chr16:76191682-76191768	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr16:76191620-76191770	GM12865	blood:	n/a	n/a
41	CTCF	chr16:76191600-76191750	HepG2	liver:	n/a	n/a
42	CTCF	chr16:76191683-76191765	GM19238	blood:	n/a	n/a
43	CTCF	chr16:76191640-76191790	HEK293	kidney:	n/a	n/a
44	CTCF	chr16:76191660-76191810	GM12874	blood:	n/a	n/a
45	CTCF	chr16:76191660-76191810	GM12867	blood:	n/a	n/a
46	CTCF	chr16:76191603-76191790	LNCaP	prostate:	n/a	n/a
47	CTCF	chr16:76191670-76191781	MCF-7	breast:	n/a	n/a
48	CTCF	chr16:76191620-76191770	MCF-7	breast:	n/a	n/a
49	CTCF	chr16:76191671-76191758	MCF-7	breast:	n/a	n/a
50	CTCF	chr16:76191660-76191810	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:
2	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:
3	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
4	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-2	chr16:76181458-76181677	ENSG00000260223.1
2	lnc-AC025287.1-2	chr16:76181454-76181621	XLOC_012013
3	lnc-AC025287.1-2	chr16:76169538-76169877	XLOC_012013
4	lnc-AC025287.1-2	chr16:76170020-76170263	ENSG00000260223.1
5	lnc-AC025287.1-2	chr16:76169537-76169877	NONHSAT143772
6	lnc-AC025287.1-2	chr16:76181458-76181704	ENSG00000260223.1
7	lnc-AC025287.1-2	chr16:76181453-76181621	NONHSAT143772
8	lnc-AC025287.1-2	chr16:76174260-76174301	ENSG00000260223.1

No data

Variant related genes	Relation type
ENSG00000260223	TF binding region

Extended variants
information (count: 679 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2288061	chr16:76169731-76169732	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556913311	chr16:76169733-76169734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs184537940	chr16:76169734-76169735	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs76403239	chr16:76169778-76169779	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs548712915	chr16:76169810-76169811	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs568568578	chr16:76169839-76169840	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2288060	chr16:76169867-76169868	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs190509042	chr16:76169895-76169896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115054445	chr16:76169897-76169898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150830275	chr16:76169902-76169903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545881092	chr16:76169918-76169919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556297266	chr16:76169935-76169936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182272822	chr16:76169944-76169945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537753008	chr16:76169961-76169962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554709900	chr16:76170023-76170024	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs370531421	chr16:76170040-76170041	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs574283946	chr16:76170043-76170044	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2288059	chr16:76170096-76170097	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs367925565	chr16:76170110-76170111	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs201157380	chr16:76170122-76170123	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs372015646	chr16:76170138-76170139	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs566350451	chr16:76170181-76170182	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs139740721	chr16:76170188-76170189	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs376301685	chr16:76170198-76170199	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370032761	chr16:76170200-76170201	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs186003774	chr16:76170238-76170239	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs190971899	chr16:76170266-76170267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570569872	chr16:76170335-76170336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561300804	chr16:76170348-76170349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562450346	chr16:76170359-76170360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17698541	chr16:76170362-76170363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542518730	chr16:76170385-76170386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562208371	chr16:76170387-76170388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11646015	chr16:76170398-76170399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs570922604	chr16:76170446-76170447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533486998	chr16:76170468-76170469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76185579	chr16:76170470-76170471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550631845	chr16:76170477-76170478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16943890	chr16:76170483-76170484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs535239192	chr16:76170489-76170490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554565787	chr16:76170493-76170494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531734275	chr16:76170509-76170510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111631242	chr16:76170541-76170542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368872142	chr16:76170552-76170553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181170448	chr16:76170562-76170563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185306229	chr16:76170563-76170564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190119721	chr16:76170630-76170631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533108121	chr16:76170645-76170646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556262002	chr16:76170669-76170670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575943276	chr16:76170677-76170678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76158200-76181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76171400-76172000	Enhancers	Placenta	Placenta
3	chr16:76174000-76176200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:76174200-76174600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:76174200-76175400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:76174400-76175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:76175000-76175800	Enhancers	Brain Hippocampus Middle	brain
8	chr16:76175200-76175600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr16:76175200-76175800	Enhancers	Brain Substantia Nigra	brain
10	chr16:76176600-76176800	Enhancers	Brain Angular Gyrus	brain
11	chr16:76179400-76179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:76195200-76196200	Enhancers	Brain Substantia Nigra	brain
13	chr16:76196200-76196600	Weak transcription	Brain Substantia Nigra	brain
14	chr16:76196600-76197000	Enhancers	Brain Substantia Nigra	brain

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