Variant report

Variant	esv3433709
Chromosome Location	chr16:46663751-46665949
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	chr16:46662868-46663841	SK-N-SH	brain:	n/a	chr16:46663446-46663459 chr16:46663445-46663466 chr16:46663444-46663460 chr16:46663448-46663456 chr16:46663443-46663461
2	CTCF	chr16:46663780-46663930	GM12872	blood:	n/a	n/a
3	CTCF	chr16:46663680-46663830	HEK293	kidney:	n/a	n/a
4	CTCF	chr16:46663920-46664070	HMF	breast:	n/a	n/a
5	CTCF	chr16:46663096-46664179	A549	lung:	n/a	chr16:46663446-46663459 chr16:46663445-46663466 chr16:46663444-46663460 chr16:46663448-46663456 chr16:46663443-46663461
6	CTCF	chr16:46663660-46663810	GM12865	blood:	n/a	n/a
7	CTCF	chr16:46663640-46663790	AG04449	skin:	n/a	n/a
8	CTCF	chr16:46663960-46664110	AG09319	gingival:	n/a	n/a
9	CTCF	chr16:46663700-46663850	HRE	kidney:	n/a	n/a
10	FOXA2	chr16:46664064-46664354	HepG2	liver:	n/a	n/a
11	RAD21	chr16:46663111-46663776	SK-N-SH	brain:	n/a	chr16:46663447-46663460 chr16:46663448-46663457 chr16:46663446-46663453 chr16:46663444-46663463
12	SMC3	chr16:46663163-46663788	SK-N-SH	brain:	n/a	chr16:46663445-46663459

No.	Distal block	Cell Line	Cell type
1	chr16:46663117..46663909-chr16:46963648..46964236,2	MCF-7	breast:
2	chr16:46663178..46663960-chr16:46723479..46724005,2	K562	blood:
3	chr16:46651769..46655217-chr16:46661271..46664188,4	K562	blood:
4	chr16:46663477..46665810-chr16:46674721..46676333,2	K562	blood:

Variant related genes	Relation type
RAB43P1	TF binding region
ENSG00000091651	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539894798	chr16:46663765-46663766	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559973687	chr16:46663786-46663787	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs4966603	chr16:46663790-46663791	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563558495	chr16:46663791-46663792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs530863659	chr16:46663885-46663886	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549468458	chr16:46663896-46663897	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368322200	chr16:46663927-46663928	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561269350	chr16:46663964-46663965	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs532195948	chr16:46663968-46663969	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201000466	chr16:46663994-46663995	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528484841	chr16:46664129-46664130	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546708128	chr16:46664146-46664147	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs9935497	chr16:46664160-46664161	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185119374	chr16:46664214-46664215	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139002121	chr16:46664237-46664238	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs142277971	chr16:46664255-46664256	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs190444206	chr16:46664273-46664274	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554646366	chr16:46664317-46664318	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112832054	chr16:46664354-46664355	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374662116	chr16:46664364-46664365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572878502	chr16:46664385-46664386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34106723	chr16:46664491-46664492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12933750	chr16:46664493-46664494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35012767	chr16:46664495-46664496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35124275	chr16:46664497-46664498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs36065841	chr16:46664499-46664500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56309128	chr16:46664527-46664528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55720456	chr16:46664529-46664530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3932852	chr16:46664535-46664536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs200671251	chr16:46664536-46664537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3932851	chr16:46664537-46664538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113107364	chr16:46664547-46664548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540715457	chr16:46664610-46664611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533764492	chr16:46664645-46664646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs8057277	chr16:46664715-46664716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183885796	chr16:46664750-46664751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562089864	chr16:46664785-46664786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188217827	chr16:46664820-46664821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs8053364	chr16:46664853-46664854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181391907	chr16:46664888-46664889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377641718	chr16:46664903-46664904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542900387	chr16:46664908-46664909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561414195	chr16:46664950-46664951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528613569	chr16:46664951-46664952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201341518	chr16:46664982-46664983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529394938	chr16:46664985-46664986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546940483	chr16:46664986-46664987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565301826	chr16:46665015-46665016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144779235	chr16:46665026-46665027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550884414	chr16:46665084-46665085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46672600	Weak transcription	Esophagus	oesophagus
2	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
3	chr16:46658000-46663800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:46659200-46672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:46662800-46664200	Enhancers	K562	blood
6	chr16:46663000-46663800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr16:46663000-46663800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr16:46663000-46663800	Enhancers	Brain Hippocampus Middle	brain
9	chr16:46663000-46663800	Enhancers	NHLF	lung
10	chr16:46663000-46664000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:46663000-46664000	Enhancers	GM12878-XiMat	blood
12	chr16:46663000-46664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr16:46663000-46664400	Flanking Active TSS	HepG2	liver
14	chr16:46663000-46666800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr16:46663200-46663800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:46663200-46663800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr16:46663200-46663800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:46663200-46663800	Enhancers	Adipose Nuclei	Adipose
19	chr16:46663200-46663800	Enhancers	Brain Germinal Matrix	brain
20	chr16:46663200-46663800	Enhancers	Duodenum Mucosa	Duodenum
21	chr16:46663200-46664000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr16:46663200-46664000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:46663200-46664000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr16:46663200-46664000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:46663200-46664000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:46663200-46664000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr16:46663200-46664000	Enhancers	Fetal Intestine Small	intestine
28	chr16:46663200-46664000	Enhancers	Fetal Muscle Trunk	muscle
29	chr16:46663200-46664200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:46663200-46664200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:46663200-46664200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr16:46663200-46664200	Enhancers	Fetal Lung	lung
33	chr16:46663200-46664200	Enhancers	Fetal Stomach	stomach
34	chr16:46663200-46664400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr16:46663400-46663800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:46663400-46663800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:46663400-46663800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:46663400-46663800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr16:46663400-46663800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:46663400-46663800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:46663400-46663800	Flanking Active TSS	A549	lung
42	chr16:46663400-46663800	Flanking Active TSS	HSMM	muscle
43	chr16:46663400-46663800	Flanking Active TSS	Osteobl	bone
44	chr16:46663400-46664000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:46663400-46664200	Enhancers	HSMMtube	muscle
46	chr16:46663600-46663800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:46663600-46663800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:46663600-46663800	Enhancers	Brain Angular Gyrus	brain
49	chr16:46663600-46663800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr16:46663600-46663800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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