Variant report

Variant	esv3375021
Chromosome Location	chr16:46601276-46603824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:427)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:46603093-46603220	K562	blood:	n/a	n/a
2	E2F6	chr16:46602994-46603157	K562	blood:	n/a	chr16:46603014-46603023 chr16:46603044-46603053 chr16:46603084-46603093 chr16:46603141-46603153
3	MAX	chr16:46602979-46603177	K562	blood:	n/a	chr16:46603148-46603157
4	MAX	chr16:46602884-46603316	K562	blood:	n/a	chr16:46603251-46603266 chr16:46603148-46603157
5	MYC	chr16:46603104-46603117	K562	blood:	n/a	n/a
6	POLR2A	chr16:46603040-46603071	MCF-7	breast:	n/a	n/a
7	POLR2A	chr16:46602986-46603130	MCF-7	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:46603321-46603371	PANC-1	pancreas:	n/a
2	chr16:46602737-46602787	AG04450	lung:	fetal
3	chr16:46603259-46603309	HNPCEpiC	eye:	n/a
4	chr16:46603321-46603371	RPTEC	kidney:	n/a
5	chr16:46603321-46603371	ovcar-3	ovarian:	n/a
6	chr16:46603321-46603371	AG09309	skin:	n/a
7	chr16:46602737-46602787	GM12892	blood:	n/a
8	chr16:46603015-46603065	Hela-S3	cervix:	n/a
9	chr16:46603021-46603071	PANC-1	pancreas:	n/a
10	chr16:46603021-46603071	IMR90	lung:	fetal
11	chr16:46603015-46603065	GM19239	blood:	n/a
12	chr16:46603259-46603309	HAEpiC	amniotic membrane:	n/a
13	chr16:46603015-46603065	Caco-2	colon:	n/a
14	chr16:46603191-46603241	AG10803	skin:	n/a
15	chr16:46603259-46603309	Hepatocyte	liver:	n/a
16	chr16:46603059-46603109	HRCEpiC	kidney:	n/a
17	chr16:46602737-46602787	HUVEC	blood vessel:	n/a
18	chr16:46603259-46603309	IMR90	lung:	fetal
19	chr16:46603321-46603371	NB4	blood:	n/a
20	chr16:46603259-46603309	U87	brain:	n/a
21	chr16:46603021-46603071	AG09319	gingival:	n/a
22	chr16:46603259-46603309	GM12892	blood:	n/a
23	chr16:46603321-46603371	SKMC	muscle:	n/a
24	chr16:46603021-46603071	SAEC	small airway:	n/a
25	chr16:46603191-46603241	HCT-116	colon:	n/a
26	chr16:46603015-46603065	HCT-116	colon:	n/a
27	chr16:46603059-46603109	HCF	heart:	n/a
28	chr16:46603191-46603241	IMR90	lung:	fetal
29	chr16:46603015-46603065	U87	brain:	n/a
30	chr16:46603021-46603071	U87	brain:	n/a
31	chr16:46602737-46602787	HMEC	breast:	n/a
32	chr16:46603191-46603241	NH-A	brain:	n/a
33	chr16:46602737-46602787	GM12878	blood:	n/a
34	chr16:46603059-46603109	HRE	kidney:	n/a
35	chr16:46603059-46603109	HAEpiC	amniotic membrane:	n/a
36	chr16:46603015-46603065	GM12878	blood:	n/a
37	chr16:46603021-46603071	GM12878	blood:	n/a
38	chr16:46603059-46603109	CMK	blood:	n/a
39	chr16:46603191-46603241	NHDF-neo	bronchial:	n/a
40	chr16:46603059-46603109	GM12892	blood:	n/a
41	chr16:46603321-46603371	HCM	heart:	n/a
42	chr16:46602737-46602787	ProgFib	skin:	n/a
43	chr16:46603021-46603071	NHBE	bronchial:	n/a
44	chr16:46603259-46603309	PANC-1	pancreas:	n/a
45	chr16:46602737-46602787	NT2-D1	testis:	n/a
46	chr16:46603321-46603371	HCPEpiC	choroid plexus:	n/a
47	chr16:46603191-46603241	PANC-1	pancreas:	n/a
48	chr16:46603059-46603109	HUVEC	blood vessel:	n/a
49	chr16:46603191-46603241	HMEC	breast:	n/a
50	chr16:46603321-46603371	HPAEpiC	pulmonary alveolar:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:46603053..46604562-chr16:46606887..46609535,2	MCF-7	breast:
2	chr16:46601237..46602830-chr16:46605603..46608385,2	K562	blood:
3	chr16:46598432..46601412-chr16:46613348..46615647,2	K562	blood:

No data

Variant related genes	Relation type
ANKRD26P1	TF binding region
ENSG00000260251	TF binding region
ENSG00000261356	TF binding region
ANKRD26P1	CpG island
ENSG00000260251	CpG island
ENSG00000261356	CpG island
ENSG00000260251	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542402733	chr16:46601294-46601295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560928628	chr16:46601299-46601300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142240366	chr16:46601356-46601357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56967921	chr16:46601394-46601395	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559820310	chr16:46601400-46601401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139760923	chr16:46601466-46601467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552013370	chr16:46601622-46601623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570117938	chr16:46601684-46601685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573701037	chr16:46601706-46601707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188249419	chr16:46601735-46601736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549251510	chr16:46601809-46601810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192562365	chr16:46601819-46601820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534728466	chr16:46601941-46601942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183740173	chr16:46601963-46601964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117825712	chr16:46601986-46601987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187425970	chr16:46602004-46602005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578115072	chr16:46602027-46602028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556731488	chr16:46602028-46602029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12923188	chr16:46602045-46602046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575135042	chr16:46602149-46602150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12929919	chr16:46602206-46602207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545321765	chr16:46602260-46602261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542689250	chr16:46602274-46602275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59723895	chr16:46602277-46602278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12929954	chr16:46602282-46602283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12929955	chr16:46602285-46602286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71158871	chr16:46602307-46602308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374365575	chr16:46602309-46602310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10711319	chr16:46602311-46602312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs55641459	chr16:46602313-46602314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7191748	chr16:46602415-46602416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539867142	chr16:46602419-46602420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144359606	chr16:46602543-46602544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578251006	chr16:46602550-46602551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545762853	chr16:46602633-46602634	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563864075	chr16:46602639-46602640	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528094404	chr16:46602706-46602707	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531047120	chr16:46602708-46602709	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549427817	chr16:46602727-46602728	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374995122	chr16:46602736-46602737	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561240753	chr16:46602790-46602791	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528445082	chr16:46602806-46602807	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12934443	chr16:46602819-46602820	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571351528	chr16:46602830-46602831	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs79399205	chr16:46602842-46602843	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550493624	chr16:46602865-46602866	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192611251	chr16:46602881-46602882	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536081666	chr16:46602883-46602884	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554617679	chr16:46602893-46602894	Genic enhancers Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs572864157	chr16:46602896-46602897	Genic enhancers Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46600000-46602000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:46600400-46602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:46601400-46603000	Weak transcription	Right Atrium	heart
4	chr16:46602000-46602600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:46602600-46603600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:46602800-46603200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:46602800-46603200	Enhancers	Fetal Heart	heart
8	chr16:46603000-46603200	ZNF genes & repeats	Right Atrium	heart
9	chr16:46603000-46603200	Enhancers	K562	blood
10	chr16:46603200-46604600	Weak transcription	Right Atrium	heart
11	chr16:46603200-46607400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:46603200-46607400	Weak transcription	K562	blood
13	chr16:46603600-46603800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:46603600-46607400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:46603800-46607400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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