Variant report

Variant	esv275435
Chromosome Location	chr16:31560678-31567522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr16:31562517-31562553	K562	blood:	n/a	n/a
2	CTCF	chr16:31567380-31567530	MCF-7	breast:	n/a	n/a
3	JUN	chr16:31564510-31564533	HepG2	liver:	n/a	n/a
4	MAFF	chr16:31562486-31562618	K562	blood:	n/a	n/a
5	MYC	chr16:31564449-31564543	GM12878	blood:	n/a	n/a
6	MYC	chr16:31564428-31564443	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31564567-31564655	A549	lung:	n/a	n/a
8	POLR2A	chr16:31564538-31564659	MCF-7	breast:	n/a	n/a
9	POLR2A	chr16:31564562-31564650	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31519671..31522254-chr16:31566727..31568830,2	MCF-7	breast:
2	chr16:31566968..31568774-chr16:31592560..31594234,2	MCF-7	breast:
3	chr16:31563997..31565923-chr16:31567034..31569130,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf58-3	chr16:31564466-31564888	ENSG00000261475.2
2	lnc-C16orf58-3	chr16:31564466-31564870	NONHSAT141932
3	lnc-AHSP-2	chr16:31565426-31566233	NONHSAT141933
4	lnc-C16orf58-3	chr16:31564466-31564870	NONHSAT141929

No data

Variant related genes	Relation type
ENSG00000261648	TF binding region
VN1R65P	TF binding region
ENSG00000261475	TF binding region
ENSG00000260625	chromatin interactions
ENSG00000261475	chromatin interactions
ENSG00000260883	chromatin interactions
ENSG00000140688	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145519410	chr16:31560796-31560797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74015561	chr16:31560836-31560837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550850532	chr16:31560871-31560872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369759302	chr16:31561027-31561028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190043738	chr16:31561032-31561033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4369688	chr16:31561056-31561057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552823426	chr16:31561064-31561065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574499652	chr16:31561117-31561118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115513046	chr16:31561128-31561129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113656260	chr16:31561159-31561160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377432362	chr16:31561197-31561198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59050904	chr16:31561244-31561245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148969413	chr16:31561266-31561267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147088035	chr16:31561280-31561281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567254799	chr16:31561283-31561284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138502862	chr16:31561285-31561286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554320136	chr16:31561309-31561310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572484790	chr16:31561323-31561324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546259172	chr16:31561325-31561326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564982291	chr16:31561363-31561364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575388453	chr16:31561364-31561365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376009098	chr16:31561372-31561373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562397037	chr16:31561434-31561435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144076200	chr16:31561453-31561454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543210932	chr16:31561541-31561542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376535080	chr16:31561542-31561543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4640201	chr16:31561563-31561564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547816341	chr16:31561662-31561663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559697292	chr16:31561670-31561671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527440838	chr16:31561676-31561677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192895793	chr16:31561685-31561686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374128043	chr16:31561728-31561729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570964196	chr16:31561787-31561788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185846595	chr16:31561789-31561790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116525282	chr16:31561791-31561792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568734161	chr16:31561868-31561869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189400759	chr16:31561869-31561870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554240031	chr16:31561902-31561903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572403643	chr16:31561905-31561906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539590982	chr16:31561944-31561945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141423280	chr16:31562505-31562506	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs62053215	chr16:31562567-31562568	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545687420	chr16:31564437-31564438	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370136550	chr16:31564521-31564522	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs540535384	chr16:31564537-31564538	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs563611306	chr16:31564585-31564586	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs386790302	chr16:31564598-31564599	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs116704350	chr16:31564599-31564600	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs185080580	chr16:31564638-31564639	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs528631325	chr16:31564691-31564692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Sezary syndrome	18413736	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31556200-31561600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31561600-31562000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:31564400-31564600	ZNF genes & repeats	Spleen	Spleen

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