Variant report

Variant	nsv514819
Chromosome Location	chr16:80908579-80913603
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	CEBPB	chr16:80912981-80913285	HepG2	liver:	n/a	chr16:80913123-80913136 chr16:80913123-80913134
2	CEBPB	chr16:80913064-80913219	A549	lung:	n/a	chr16:80913123-80913136 chr16:80913123-80913134
3	CEBPB	chr16:80908811-80909220	Hela-S3	cervix:	n/a	n/a
4	E2F4	chr16:80911280-80911354	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr16:80908850-80909192	Hela-S3	cervix:	n/a	chr16:80909147-80909157
6	MAFK	chr16:80911753-80911948	HepG2	liver:	n/a	n/a
7	MAZ	chr16:80912517-80912671	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:80909927-80909973	Gliobla	brain:	n/a	n/a
9	POLR2A	chr16:80912404-80912503	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr16:80909997-80910021	A549	lung:	n/a	n/a
11	POLR2A	chr16:80909680-80909781	Gliobla	brain:	n/a	n/a
12	POLR2A	chr16:80909800-80909806	Gliobla	brain:	n/a	n/a
13	POLR2A	chr16:80909811-80909836	Gliobla	brain:	n/a	n/a
14	POLR2A	chr16:80911424-80911557	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:80909844-80909995	A549	lung:	n/a	n/a
16	TCF7L2	chr16:80909087-80909152	Hela-S3	cervix:	n/a	n/a
17	USF2	chr16:80909916-80909970	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80905485..80908093-chr16:80908287..80911810,3	K562	blood:
2	chr16:80909329..80911458-chr16:80945639..80947612,2	MCF-7	breast:
3	chr16:80910057..80913120-chr16:80916062..80918233,3	MCF-7	breast:
4	chr16:80897559..80901306-chr16:80907284..80910371,3	MCF-7	breast:
5	chr16:80903251..80907289-chr16:80908287..80911628,3	K562	blood:

Variant related genes	Relation type
ENSG00000260896	TF binding region
ENSG00000260896	chromatin interactions

Extended variants
information (count: 284 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35301463	chr16:80908579-80908580	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78886998	chr16:80908581-80908582	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552322599	chr16:80908616-80908617	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570527018	chr16:80908626-80908627	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376493423	chr16:80908637-80908638	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186495253	chr16:80908642-80908643	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553053842	chr16:80908646-80908647	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563613538	chr16:80908651-80908652	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532859270	chr16:80908665-80908666	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377601352	chr16:80908684-80908685	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574652276	chr16:80908691-80908692	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552631370	chr16:80908751-80908752	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1423852	chr16:80908761-80908762	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528727120	chr16:80908773-80908774	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548693384	chr16:80908830-80908831	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557633592	chr16:80908855-80908856	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190918639	chr16:80908865-80908866	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74028811	chr16:80908903-80908904	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557755084	chr16:80908912-80908913	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11862284	chr16:80908913-80908914	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535678392	chr16:80908917-80908918	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561805092	chr16:80908961-80908962	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139186842	chr16:80908979-80908980	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2549757	chr16:80909019-80909020	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562785261	chr16:80909021-80909022	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144448462	chr16:80909039-80909040	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551676015	chr16:80909048-80909049	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182188467	chr16:80909060-80909061	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528476378	chr16:80909093-80909094	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186678008	chr16:80909131-80909132	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568264021	chr16:80909137-80909138	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146123379	chr16:80909189-80909190	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570620735	chr16:80909195-80909196	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140107692	chr16:80909200-80909201	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142466894	chr16:80909205-80909206	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539694851	chr16:80909221-80909222	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191090318	chr16:80909237-80909238	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375600700	chr16:80909239-80909240	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572864790	chr16:80909240-80909241	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541845790	chr16:80909246-80909247	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540276597	chr16:80909266-80909267	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35941474	chr16:80909306-80909307	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74028812	chr16:80909314-80909315	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573687566	chr16:80909320-80909321	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12446655	chr16:80909378-80909379	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112862579	chr16:80909434-80909435	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs199941178	chr16:80909462-80909463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs67444421	chr16:80909463-80909464	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs398119547	chr16:80909465-80909466	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373713690	chr16:80909500-80909501	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80908400-80909600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:80908600-80909400	Enhancers	Hela-S3	cervix
3	chr16:80908800-80909800	Enhancers	Fetal Lung	lung
4	chr16:80908800-80910200	Enhancers	Pancreas	Pancrea
5	chr16:80909400-80909600	Enhancers	Liver	Liver
6	chr16:80909400-80910800	Weak transcription	Hela-S3	cervix
7	chr16:80909600-80910000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:80909600-80910000	Active TSS	Adipose Nuclei	Adipose
9	chr16:80909600-80910000	Flanking Active TSS	Liver	Liver
10	chr16:80909600-80910000	Active TSS	Duodenum Mucosa	Duodenum
11	chr16:80909600-80910000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr16:80909600-80910000	Enhancers	Right Ventricle	heart
13	chr16:80909600-80910000	Bivalent/Poised TSS	NHDF-Ad	bronchial
14	chr16:80909600-80910200	Enhancers	Gastric	stomach
15	chr16:80909800-80910000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
16	chr16:80909800-80910000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr16:80909800-80910000	Bivalent Enhancer	Small Intestine	intestine
18	chr16:80909800-80910200	Enhancers	Lung	lung
19	chr16:80909800-80910200	Enhancers	Right Atrium	heart
20	chr16:80910000-80910200	Bivalent Enhancer	Aorta	Aorta
21	chr16:80910000-80910200	Bivalent Enhancer	Left Ventricle	heart
22	chr16:80910000-80910400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr16:80910200-80916800	Weak transcription	Gastric	stomach
24	chr16:80910800-80911000	Enhancers	Hela-S3	cervix

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