Variant report

Variant	nsv974851
Chromosome Location	chr16:12036458-12041845
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	CEBPB	chr16:12040374-12040519	IMR90	lung:	n/a	n/a
2	POLR2A	chr16:12037169-12037271	ProgFib	skin:	n/a	n/a
3	POLR2A	chr16:12038154-12038346	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:12038169-12038289	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:12038059-12038397	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:12038059-12038389	GM12892	blood:	n/a	n/a
7	RCOR1	chr16:12041803-12041999	K562	blood:	n/a	n/a
8	ZNF384	chr16:12040315-12040429	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12040634..12043075-chr16:12070522..12072619,2	K562	blood:
2	chr16:12040634..12043579-chr16:12069006..12072022,3	K562	blood:

Variant related genes	Relation type
ENSG00000234719	TF binding region
ENSG00000260488	chromatin interactions
ENSG00000234719	chromatin interactions
ENSG00000048471	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs553190017	chr16:12037171-12037172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545311960	chr16:12037192-12037193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190236490	chr16:12037226-12037227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572789481	chr16:12037243-12037244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544947230	chr16:12037247-12037248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564116639	chr16:12037254-12037255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150018142	chr16:12038066-12038067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545687230	chr16:12038083-12038084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs182603592	chr16:12038086-12038087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188106764	chr16:12038111-12038112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs115129632	chr16:12038151-12038152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201251433	chr16:12038212-12038213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs202018306	chr16:12038220-12038221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529730955	chr16:12038224-12038225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113441129	chr16:12038238-12038239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs141268009	chr16:12038258-12038259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538451390	chr16:12038281-12038282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs143582809	chr16:12038291-12038292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568804718	chr16:12038336-12038337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs192937639	chr16:12038348-12038349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112948681	chr16:12038377-12038378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557057240	chr16:12038384-12038385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533561699	chr16:12038391-12038392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs398028746	chr16:12038616-12038617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397692330	chr16:12038617-12038618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184841495	chr16:12038678-12038679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560705204	chr16:12038736-12038737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146775214	chr16:12038749-12038750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575648958	chr16:12038752-12038753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576215531	chr16:12038756-12038757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200316164	chr16:12038763-12038764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566897644	chr16:12039406-12039407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138716869	chr16:12039424-12039425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371277140	chr16:12039441-12039442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559022932	chr16:12039449-12039450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189465084	chr16:12039459-12039460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142729333	chr16:12039460-12039461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538443869	chr16:12039474-12039475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147352468	chr16:12039524-12039525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575076416	chr16:12039531-12039532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540556453	chr16:12039539-12039540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112100218	chr16:12039545-12039546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576447124	chr16:12039556-12039557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137872652	chr16:12039582-12039583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562607094	chr16:12039657-12039658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531363010	chr16:12039695-12039696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553345943	chr16:12039719-12039720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201298052	chr16:12039726-12039727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140354460	chr16:12039734-12039735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576479307	chr16:12039735-12039736	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
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	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
Breast cancer	21858162	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12038600-12038800	Enhancers	HepG2	liver
2	chr16:12039400-12039800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:12039600-12040000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:12039600-12040400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:12040000-12040200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:12040000-12040400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:12040200-12040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:12040400-12040600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:12040400-12040600	Enhancers	K562	blood
10	chr16:12040400-12041600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
12	chr16:12040600-12041600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:12040600-12042800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:12041600-12041800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:12041600-12042000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:12041600-12042000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:12041600-12042200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:12041600-12042200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:12041600-12042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:12041800-12042000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr16:12041800-12042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:12041800-12042000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:12041800-12042000	Enhancers	A549	lung
24	chr16:12041800-12042000	Bivalent Enhancer	K562	blood
25	chr16:12041800-12042200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:12041800-12042200	Strong transcription	Fetal Stomach	stomach

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