Variant report

Variant	nsv978006
Chromosome Location	chr16:81115953-81121318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:81118366-81118432	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr16:81118223-81118430	K562	blood:	n/a	n/a
3	CTCF	chr16:81119734-81119871	K562	blood:	n/a	n/a
4	CTCF	chr16:81116492-81116570	Medullo	brain:	n/a	n/a
5	FOXA2	chr16:81119766-81119911	A549	lung:	n/a	n/a
6	FOXA2	chr16:81119613-81120059	A549	lung:	n/a	n/a
7	POLR2A	chr16:81116885-81117027	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:81119080-81119145	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:81118433-81118481	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:81120823-81121012	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:81117653-81117825	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:81119768-81119856	SK-N-SH	brain:	n/a	n/a
13	TBL1XR1	chr16:81117487-81117519	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81109770..81112596-chr16:81113269..81117214,4	MCF-7	breast:
2	chr16:81038477..81040518-chr16:81113269..81117145,3	K562	blood:
3	chr16:81114602..81116172-chr16:81123584..81126583,2	MCF-7	breast:
4	chr16:81109532..81111432-chr16:81117423..81118984,2	MCF-7	breast:
5	chr16:81116747..81118686-chr16:81121475..81123225,2	K562	blood:
6	chr16:81115837..81117443-chr16:81124518..81126684,3	K562	blood:
7	chr16:81118252..81120833-chr16:81125164..81126859,2	K562	blood:
8	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:
9	chr16:81069395..81071569-chr16:81120451..81122846,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260643	TF binding region
ENSG00000166451	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000166455	chromatin interactions
ENSG00000245059	chromatin interactions

Extended variants
information (count: 322 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8177957	chr16:81116010-81116011	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs8177956	chr16:81116050-81116051	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs1050364	chr16:81116118-81116119	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs538105756	chr16:81116130-81116131	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs550717833	chr16:81116196-81116197	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs569208092	chr16:81116216-81116217	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs539429451	chr16:81116279-81116280	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs1050350	chr16:81116280-81116281	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs572992959	chr16:81116288-81116289	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs200021264	chr16:81116307-81116308	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs377128263	chr16:81116317-81116318	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs555498065	chr16:81116330-81116331	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs574266697	chr16:81116359-81116360	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs556259799	chr16:81116367-81116368	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs563018187	chr16:81116368-81116369	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs8177954	chr16:81116372-81116373	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs8177953	chr16:81116383-81116384	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
18	rs527332464	chr16:81116389-81116390	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs549211286	chr16:81116409-81116410	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs561031955	chr16:81116427-81116428	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs201259572	chr16:81116454-81116455	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs370229647	chr16:81116474-81116475	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs147550679	chr16:81116502-81116503	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs201641155	chr16:81116517-81116518	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs550080473	chr16:81116538-81116539	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs386833859	chr16:81116569-81116570	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs372585677	chr16:81116584-81116585	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs200332491	chr16:81116586-81116587	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs369011197	chr16:81116601-81116602	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs551360558	chr16:81116632-81116633	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs566632770	chr16:81116633-81116634	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs533993919	chr16:81116642-81116643	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs538629243	chr16:81116652-81116653	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs191319749	chr16:81116683-81116684	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs572907374	chr16:81116690-81116691	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs558124481	chr16:81116707-81116708	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs112107494	chr16:81116780-81116781	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs386792843	chr16:81116781-81116782	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs34446786	chr16:81116784-81116785	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs560020309	chr16:81116785-81116786	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs397855168	chr16:81116786-81116787	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs556854337	chr16:81116874-81116875	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs8177950	chr16:81116895-81116896	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs8177949	chr16:81116911-81116912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370168731	chr16:81116914-81116915	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs8177948	chr16:81116920-81116921	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs7203546	chr16:81116922-81116923	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs142514285	chr16:81116939-81116940	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs8177947	chr16:81116948-81116949	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs8177946	chr16:81116970-81116971	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81116800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:81111400-81117200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81111400-81122400	Weak transcription	Lung	lung
4	chr16:81111400-81122600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:81111400-81122800	Weak transcription	Ovary	ovary
6	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
8	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
10	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
11	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:81111400-81129000	Weak transcription	Gastric	stomach
13	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr16:81111600-81116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:81111600-81116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:81111600-81116800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:81111600-81116800	Weak transcription	Adipose Nuclei	Adipose
18	chr16:81111600-81116800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr16:81111600-81116800	Weak transcription	Fetal Stomach	stomach
20	chr16:81111600-81117200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:81111600-81117400	Weak transcription	Spleen	Spleen
22	chr16:81111600-81117600	Weak transcription	Fetal Intestine Small	intestine
23	chr16:81111600-81119200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:81111600-81120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:81111600-81120800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:81111600-81122000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:81111600-81122200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:81111600-81122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:81111600-81122400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:81111600-81122400	Weak transcription	Fetal Intestine Large	intestine
31	chr16:81111600-81122400	Weak transcription	NHEK	skin
32	chr16:81111600-81122800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr16:81111600-81122800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:81111600-81123000	Weak transcription	Primary T cells from cord blood	blood
35	chr16:81111600-81123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:81111600-81123000	Weak transcription	HMEC	breast
37	chr16:81111600-81123200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:81111600-81123200	Weak transcription	Placenta	Placenta
39	chr16:81111600-81125600	Weak transcription	GM12878-XiMat	blood
40	chr16:81111600-81127800	Weak transcription	Brain Substantia Nigra	brain
41	chr16:81111600-81128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr16:81111600-81128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:81111600-81128200	Weak transcription	Brain Hippocampus Middle	brain
44	chr16:81111600-81128200	Weak transcription	NH-A	brain
45	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
49	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr16:81111600-81128400	Weak transcription	HSMM	muscle

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