Variant report

Variant	nsv978171
Chromosome Location	chr16:81508429-81510591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:81509067-81509268	IMR90	lung:	n/a	chr16:81509121-81509132 chr16:81509123-81509134
2	CEBPB	chr16:81509075-81509225	HepG2	liver:	n/a	chr16:81509121-81509132 chr16:81509123-81509134
3	CEBPB	chr16:81509038-81509210	A549	lung:	n/a	chr16:81509121-81509132 chr16:81509123-81509134
4	CEBPB	chr16:81508961-81509160	K562	blood:	n/a	chr16:81509121-81509132 chr16:81509123-81509134
5	POLR2A	chr16:81510418-81510460	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:81510296-81510351	K562	blood:	n/a	n/a
7	POLR2A	chr16:81508659-81508770	K562	blood:	n/a	n/a
8	POLR2A	chr16:81509600-81509622	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:81510000-81510161	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:81508008-81508464	A549	lung:	n/a	n/a
11	POLR2A	chr16:81509168-81509585	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:81509108-81510770	A549	lung:	n/a	n/a
13	POLR2A	chr16:81508203-81508444	A549	lung:	n/a	n/a
14	ZNF384	chr16:81509638-81509738	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81510145-81510195	HCF	heart:	n/a
2	chr16:81510145-81510195	BJ	skin:	n/a
3	chr16:81510145-81510195	HMEC	breast:	n/a
4	chr16:81510145-81510195	HRCEpiC	kidney:	n/a
5	chr16:81510145-81510195	RPTEC	kidney:	n/a
6	chr16:81510145-81510195	SK-N-MC	brain:	n/a
7	chr16:81510145-81510195	ovcar-3	ovarian:	n/a
8	chr16:81510145-81510195	GM12878	blood:	n/a
9	chr16:81510145-81510195	HCM	heart:	n/a
10	chr16:81510145-81510195	SK-N-SH_RA	brain:	n/a
11	chr16:81510145-81510195	NHBE	bronchial:	n/a
12	chr16:81510145-81510195	U87	brain:	n/a
13	chr16:81510145-81510195	Hela-S3	cervix:	n/a
14	chr16:81510145-81510195	SKMC	muscle:	n/a
15	chr16:81510145-81510195	HEK293	kidney:	embryo
16	chr16:81510145-81510195	GM12892	blood:	n/a
17	chr16:81510145-81510195	HEEpiC	esophagus:	n/a
18	chr16:81510145-81510195	PrEC	prostate:	n/a
19	chr16:81510145-81510195	Jurkat	blood:	n/a
20	chr16:81510145-81510195	NB4	blood:	n/a
21	chr16:81510145-81510195	AG09309	skin:	n/a
22	chr16:81510145-81510195	HL-60	blood:	n/a
23	chr16:81510145-81510195	NHDF-neo	bronchial:	n/a
24	chr16:81510145-81510195	HNPCEpiC	eye:	n/a
25	chr16:81510145-81510195	MCF-7	breast:	n/a
26	chr16:81510145-81510195	GM12891	blood:	n/a
27	chr16:81510145-81510195	ECC-1	luminal epithelium:	n/a
28	chr16:81510145-81510195	GM19239	blood:	n/a
29	chr16:81510145-81510195	CMK	blood:	n/a
30	chr16:81510145-81510195	SAEC	small airway:	n/a
31	chr16:81510145-81510195	PFSK-1	brain:	n/a
32	chr16:81510145-81510195	HAEpiC	amniotic membrane:	n/a
33	chr16:81510145-81510195	HepG2	liver:	n/a
34	chr16:81510145-81510195	K562	blood:	n/a
35	chr16:81510145-81510195	HRE	kidney:	n/a
36	chr16:81510145-81510195	MCF10A-Er-Src	breast:	n/a
37	chr16:81510145-81510195	NH-A	brain:	n/a
38	chr16:81510145-81510195	HRPEpiC	eye:	n/a
39	chr16:81510145-81510195	HUVEC	blood vessel:	n/a
40	chr16:81510145-81510195	SK-N-SH	brain:	n/a
41	chr16:81510145-81510195	IMR90	lung:	fetal
42	chr16:81510145-81510195	ProgFib	skin:	n/a
43	chr16:81510145-81510195	H1-hESC	embryonic stem cell:	embryo
44	chr16:81510145-81510195	AG04450	lung:	fetal
45	chr16:81510145-81510195	LNCaP	prostate:	n/a
46	chr16:81510145-81510195	Caco-2	colon:	n/a
47	chr16:81510145-81510195	T-47D	breast:	n/a
48	chr16:81510145-81510195	AG10803	skin:	n/a
49	chr16:81510145-81510195	HPAEpiC	pulmonary alveolar:	n/a
50	chr16:81510145-81510195	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81480768..81483026-chr16:81506735..81508794,2	MCF-7	breast:
2	chr16:81510328..81512312-chr16:81524530..81527083,3	MCF-7	breast:
3	chr16:81506233..81509171-chr16:81529935..81531469,2	MCF-7	breast:
4	chr16:81477412..81480094-chr16:81509013..81511595,4	MCF-7	breast:
5	chr16:81493353..81497487-chr16:81505659..81509589,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260229	TF binding region
ENSG00000260229	CpG island
ENSG00000153815	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538992908	chr16:81508447-81508448	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386792938	chr16:81508460-81508461	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9935704	chr16:81508461-81508462	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369445209	chr16:81508464-81508465	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2306115	chr16:81508469-81508470	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190858882	chr16:81508485-81508486	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182663521	chr16:81508497-81508498	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543043038	chr16:81508517-81508518	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188902594	chr16:81508613-81508614	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16955417	chr16:81508633-81508634	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576911907	chr16:81508669-81508670	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115695976	chr16:81508704-81508705	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71400159	chr16:81508788-81508789	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559701569	chr16:81508809-81508810	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529890039	chr16:81508838-81508839	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs193228982	chr16:81508857-81508858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146633531	chr16:81508874-81508875	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561208080	chr16:81508876-81508877	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183062124	chr16:81508928-81508929	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549903168	chr16:81508936-81508937	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534051551	chr16:81508938-81508939	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116477652	chr16:81508939-81508940	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2927334	chr16:81508976-81508977	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187345588	chr16:81508995-81508996	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs75394705	chr16:81509001-81509002	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143070448	chr16:81509014-81509015	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536434788	chr16:81509037-81509038	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555186935	chr16:81509053-81509054	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531845517	chr16:81509079-81509080	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs55674732	chr16:81509095-81509096	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111256427	chr16:81509096-81509097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397800978	chr16:81509105-81509106	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576055139	chr16:81509109-81509110	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536476402	chr16:81509122-81509123	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558381274	chr16:81509131-81509132	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548441506	chr16:81509166-81509167	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576876854	chr16:81509202-81509203	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146108134	chr16:81509232-81509233	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559662364	chr16:81509235-81509236	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574818062	chr16:81509258-81509259	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191926115	chr16:81509271-81509272	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114722698	chr16:81509273-81509274	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2927333	chr16:81509279-81509280	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2927332	chr16:81509293-81509294	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114652814	chr16:81509320-81509321	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142865406	chr16:81509388-81509389	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564860185	chr16:81509407-81509408	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547422084	chr16:81509408-81509409	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12926539	chr16:81509422-81509423	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566024802	chr16:81509426-81509427	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
2	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:81492200-81512200	Genic enhancers	A549	lung
5	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:81497600-81514600	Weak transcription	HSMM	muscle
7	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
10	chr16:81503800-81511200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:81504000-81509800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:81504000-81511600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:81504200-81513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:81504400-81508600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr16:81504400-81508800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:81504400-81508800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr16:81504400-81514600	Strong transcription	NHEK	skin
20	chr16:81505200-81511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
23	chr16:81505600-81508600	Enhancers	Placenta	Placenta
24	chr16:81505600-81512800	Strong transcription	Dnd41	blood
25	chr16:81505800-81508600	Weak transcription	K562	blood
26	chr16:81505800-81514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:81505800-81515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
29	chr16:81506000-81509400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:81506200-81508600	Enhancers	Fetal Muscle Trunk	muscle
32	chr16:81506200-81510200	Weak transcription	GM12878-XiMat	blood
33	chr16:81506200-81510400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:81506200-81512000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:81506400-81508600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr16:81506400-81508800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:81506400-81508800	Genic enhancers	Fetal Intestine Small	intestine
38	chr16:81506400-81509000	Enhancers	Fetal Lung	lung
39	chr16:81506400-81509000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr16:81506400-81510400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:81506600-81508600	Enhancers	Ovary	ovary
42	chr16:81506600-81508800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:81506600-81509000	Weak transcription	Fetal Brain Female	brain
44	chr16:81506600-81510000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:81506600-81510200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:81506800-81510200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:81506800-81510400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr16:81506800-81511000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:81506800-81511000	Enhancers	Primary B cells from cord blood	blood

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