Variant report

Variant	esv3355912
Chromosome Location	chr16:46826751-46831749
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	CTCF	chr16:46827456-46827484	GM10266	blood:	n/a	n/a
2	CTCF	chr16:46827400-46827550	HepG2	liver:	n/a	n/a
3	CTCF	chr16:46827420-46827570	GM12872	blood:	n/a	n/a
4	FOXA1	chr16:46831424-46831896	HepG2	liver:	n/a	n/a
5	FOXA1	chr16:46831441-46831811	HepG2	liver:	n/a	n/a
6	KAP1	chr16:46830899-46830984	HEK293	kidney:	n/a	n/a
7	POLR2A	chr16:46831410-46831417	Gliobla	brain:	n/a	n/a
8	SETDB1	chr16:46827656-46828104	U2OS	brain:	n/a	n/a
9	SETDB1	chr16:46830712-46831170	U2OS	brain:	n/a	n/a
10	STAT3	chr16:46828843-46828977	MCF10A-Er-Src	breast:	n/a	n/a
11	YY1	chr16:46830790-46831038	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46826593..46829284-chr16:46831194..46833933,2	K562	blood:
2	chr16:46826593..46829284-chr16:46831194..46833933,2	K562	blood:

Variant related genes	Relation type
MYLK3	TF binding region

Extended variants
information (count: 155 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577514461	chr16:46826771-46826772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187561604	chr16:46826801-46826802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532335348	chr16:46826837-46826838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs36484	chr16:46826840-46826841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371097939	chr16:46826846-46826847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375230081	chr16:46826853-46826854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183008796	chr16:46826885-46826886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563405296	chr16:46826904-46826905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188098253	chr16:46826911-46826912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192159017	chr16:46826924-46826925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59046366	chr16:46826980-46826981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551887901	chr16:46826981-46826982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78560091	chr16:46826995-46826996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398029247	chr16:46826996-46826997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549832382	chr16:46827025-46827026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184240267	chr16:46827058-46827059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187869695	chr16:46827248-46827249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547043446	chr16:46827319-46827320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530593325	chr16:46827323-46827324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565687606	chr16:46827374-46827375	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570541805	chr16:46827395-46827396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559035976	chr16:46827403-46827404	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs534445888	chr16:46827501-46827502	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs36483	chr16:46827524-46827525	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs571045246	chr16:46827529-46827530	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs538087162	chr16:46827569-46827570	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201895761	chr16:46827597-46827598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556596798	chr16:46827631-46827632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574807322	chr16:46827632-46827633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192435750	chr16:46827694-46827695	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs564031557	chr16:46827742-46827743	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs529724404	chr16:46827771-46827772	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145393269	chr16:46827778-46827779	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs77687890	chr16:46827819-46827820	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564074077	chr16:46827820-46827821	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs547027174	chr16:46827841-46827842	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531512496	chr16:46827842-46827843	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs115483267	chr16:46827907-46827908	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116826571	chr16:46827919-46827920	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143336419	chr16:46827920-46827921	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568728829	chr16:46827922-46827923	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547471195	chr16:46827946-46827947	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs547808943	chr16:46827955-46827956	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184649689	chr16:46827962-46827963	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532997327	chr16:46828078-46828079	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs369364743	chr16:46828108-46828109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535706971	chr16:46828135-46828136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147942258	chr16:46828195-46828196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs189166879	chr16:46828219-46828220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs372082206	chr16:46828253-46828254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46822600-46827400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:46824200-46839600	Weak transcription	HSMM	muscle
3	chr16:46824400-46828600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:46824400-46831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:46824400-46837400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:46824400-46839800	Weak transcription	Gastric	stomach
7	chr16:46824400-46846800	Weak transcription	Left Ventricle	heart
8	chr16:46824400-46847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:46824600-46827200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:46824600-46827400	Weak transcription	Brain Germinal Matrix	brain
11	chr16:46824600-46828600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:46824600-46828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:46824600-46829400	Weak transcription	Fetal Kidney	kidney
14	chr16:46824600-46830200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:46824600-46830600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:46824600-46836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:46824600-46839400	Weak transcription	NHLF	lung
18	chr16:46824600-46843200	Weak transcription	HUVEC	blood vessel
19	chr16:46824600-46843600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:46824600-46843800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:46824600-46856000	Weak transcription	Ovary	ovary
22	chr16:46824600-46863800	Weak transcription	Aorta	Aorta
23	chr16:46824800-46836600	Weak transcription	Esophagus	oesophagus
24	chr16:46824800-46843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:46824800-46843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:46824800-46843600	Weak transcription	NH-A	brain
27	chr16:46824800-46843600	Weak transcription	Osteobl	bone
28	chr16:46825000-46855200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr16:46825200-46840800	Weak transcription	Hela-S3	cervix
30	chr16:46825400-46843400	Weak transcription	K562	blood
31	chr16:46826800-46827400	Weak transcription	Fetal Intestine Small	intestine
32	chr16:46827200-46827800	Weak transcription	Liver	Liver
33	chr16:46827200-46828600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:46827400-46827800	Weak transcription	Stomach Mucosa	stomach
35	chr16:46827400-46832400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:46827600-46827800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr16:46828000-46829600	Weak transcription	Liver	Liver
38	chr16:46828000-46833000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr16:46828200-46831200	Weak transcription	Fetal Intestine Small	intestine
40	chr16:46828600-46829000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:46828600-46829200	ZNF genes & repeats	A549	lung
42	chr16:46828600-46829600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:46828600-46830600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:46828600-46831600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:46828800-46829200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:46828800-46829400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:46829000-46829600	ZNF genes & repeats	Dnd41	blood
48	chr16:46829000-46843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:46829000-46855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:46829000-46863400	Weak transcription	Fetal Stomach	stomach

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