Variant report

Variant	esv3373306
Chromosome Location	chr16:80601951-80603199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr16:80603153-80603855	SK-N-SH	brain:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
2	JUN	chr16:80603090-80604311	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
3	POLR2A	chr16:80603191-80604331	GM12892	blood:	n/a	n/a
4	RUNX3	chr16:80602089-80602429	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80594243..80596595-chr16:80599585..80602236,2	K562	blood:
2	chr16:80595839..80600096-chr16:80600224..80603898,5	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-2	chr16:80603122-80603566	NONHSAT143899
2	lnc-CDYL2-2	chr16:80601845-80602010	NONHSAT143899
3	lnc-CDYL2-2	chr16:80603122-80603581	XLOC_012020
4	lnc-CDYL2-2	chr16:80602713-80602875	XLOC_012020
5	lnc-CDYL2-2	chr16:80601845-80602010	ENSG00000260737.1
6	lnc-CDYL2-2	chr16:80602704-80602793	NR_104665
7	lnc-CDYL2-2	chr16:80603122-80603167	ENSG00000260737.1
8	lnc-CDYL2-2	chr16:80601845-80602010	XLOC_012020
9	lnc-CDYL2-2	chr16:80602704-80602793	NONHSAT143899
10	lnc-CDYL2-2	chr16:80601845-80602010	NR_104665
11	lnc-CDYL2-2	chr16:80601845-80602010	ENSG00000260737.1
12	lnc-CDYL2-2	chr16:80603122-80603566	NONHSAT143893
13	lnc-CDYL2-2	chr16:80601845-80602010	ENSG00000250904
14	lnc-CDYL2-2	chr16:80602713-80603584	ENSG00000250904
15	lnc-CDYL2-2	chr16:80603122-80603507	NR_104665
16	lnc-CDYL2-2	chr16:80601845-80602010	XLOC_012020
17	lnc-CDYL2-2	chr16:80603088-80603495	NONHSAT143901
18	lnc-CDYL2-2	chr16:80602713-80602810	ENSG00000260737.1
19	lnc-CDYL2-2	chr16:80601845-80602010	NONHSAT143893
20	lnc-CDYL2-2	chr16:80601845-80602010	ENSG00000260737.1
21	lnc-CDYL2-2	chr16:80601845-80602010	ENSG00000260737.1
22	lnc-CDYL2-2	chr16:80602704-80602795	ENSG00000260737.1

No data

Variant related genes	Relation type
ENSG00000259867	TF binding region
ENSG00000260737	TF binding region
ENSG00000259867	chromatin interactions
TNPO1	miRNA target sites
RBM10	miRNA target sites

Extended variants
information (count: 46 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375686664	chr16:80601954-80601955	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs568487312	chr16:80601988-80601989	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs372523260	chr16:80601989-80601990	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs557465060	chr16:80602068-80602069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569280305	chr16:80602073-80602074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554979938	chr16:80602074-80602075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148283169	chr16:80602092-80602093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183324483	chr16:80602100-80602101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540899055	chr16:80602197-80602198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77106429	chr16:80602202-80602203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113849785	chr16:80602207-80602208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574514574	chr16:80602233-80602234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541545775	chr16:80602234-80602235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373973101	chr16:80602252-80602253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141357247	chr16:80602255-80602256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58720774	chr16:80602280-80602281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs57749229	chr16:80602288-80602289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530431682	chr16:80602330-80602331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568637876	chr16:80602336-80602337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142827388	chr16:80602415-80602416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188110715	chr16:80602481-80602482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60379104	chr16:80602544-80602545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183796129	chr16:80602552-80602553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545381915	chr16:80602674-80602675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112182591	chr16:80602683-80602684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564673717	chr16:80602685-80602686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528760576	chr16:80602712-80602713	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs74031517	chr16:80602762-80602763	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113548713	chr16:80602775-80602776	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs529463396	chr16:80602795-80602796	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs573497147	chr16:80602837-80602838	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs551439513	chr16:80602856-80602857	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs569364882	chr16:80602934-80602935	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs571777893	chr16:80602958-80602959	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs377091020	chr16:80602969-80602970	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs537505591	chr16:80602987-80602988	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs186626216	chr16:80602990-80602991	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs374147766	chr16:80603008-80603009	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs570691014	chr16:80603073-80603074	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs150363750	chr16:80603079-80603080	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs137893665	chr16:80603082-80603083	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs574293471	chr16:80603109-80603110	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs541582099	chr16:80603160-80603161	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs556676150	chr16:80603164-80603165	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs574991871	chr16:80603195-80603196	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs192536576	chr16:80603197-80603198	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80598400-80602000	Weak transcription	Fetal Intestine Small	intestine
2	chr16:80598400-80603000	Weak transcription	Small Intestine	intestine
3	chr16:80598800-80602800	Weak transcription	Fetal Intestine Large	intestine
4	chr16:80599000-80602800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:80599000-80602800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:80599000-80602800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:80599000-80602800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80599000-80603000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:80599000-80603200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:80599000-80603400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:80599000-80603400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:80599000-80607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:80599200-80602800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr16:80599200-80603000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:80599200-80603000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:80599200-80603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr16:80599200-80603200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:80600200-80603400	Weak transcription	Hela-S3	cervix
19	chr16:80602000-80602200	Enhancers	Fetal Intestine Small	intestine
20	chr16:80602200-80602600	Weak transcription	Fetal Intestine Small	intestine
21	chr16:80602600-80604400	Enhancers	Fetal Intestine Small	intestine
22	chr16:80602800-80603000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr16:80602800-80603400	Enhancers	Osteobl	bone
24	chr16:80602800-80604200	Enhancers	HUVEC	blood vessel
25	chr16:80602800-80604400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr16:80602800-80604400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:80602800-80604400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr16:80602800-80604400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:80602800-80604400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr16:80602800-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:80602800-80604400	Enhancers	Fetal Intestine Large	intestine
32	chr16:80602800-80604400	Enhancers	NH-A	brain
33	chr16:80602800-80604400	Enhancers	NHEK	skin
34	chr16:80603000-80603600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr16:80603000-80603800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:80603000-80604000	Enhancers	HSMM	muscle
37	chr16:80603000-80604200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr16:80603000-80604200	Enhancers	Duodenum Mucosa	Duodenum
39	chr16:80603000-80604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:80603000-80604400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr16:80603000-80604400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:80603000-80604400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr16:80603000-80604400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:80603000-80604400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr16:80603000-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:80603000-80604400	Enhancers	Liver	Liver
47	chr16:80603000-80604400	Enhancers	Small Intestine	intestine
48	chr16:80603000-80604400	Enhancers	NHLF	lung

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