Variant report

Variant	nsv977109
Chromosome Location	chr16:12020022-12041845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

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	FOSL2	chr16:12029595-12029917	HepG2	liver:	n/a	n/a
3	FOSL2	chr16:12024280-12024663	HepG2	liver:	n/a	n/a
4	FOSL2	chr16:12022724-12022963	HepG2	liver:	n/a	n/a
5	GATA1	chr16:12021199-12021610	PBDE	blood:	n/a	n/a
6	GATA2	chr16:12030265-12030454	K562	blood:	n/a	n/a
7	JUND	chr16:12024272-12024458	HepG2	liver:	n/a	n/a
8	PAX5	chr16:12021286-12021482	GM12878	blood:	n/a	n/a
9	PAX5	chr16:12029566-12029934	GM12878	blood:	n/a	chr16:12029707-12029724
10	PAX5	chr16:12021214-12021525	GM12878	blood:	n/a	n/a
11	PAX5	chr16:12021158-12021555	GM12878	blood:	n/a	n/a
12	PAX5	chr16:12029572-12029898	GM12878	blood:	n/a	chr16:12029707-12029724
13	PAX5	chr16:12023413-12023561	GM12878	blood:	n/a	n/a
14	PAX5	chr16:12021188-12021528	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:12038059-12038397	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:12029541-12029924	GM12892	blood:	n/a	n/a
17	POLR2A	chr16:12029530-12029941	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:12024268-12024481	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr16:12035380-12035582	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:12024255-12024692	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:12021376-12021488	GM12878	blood:	n/a	n/a
22	POLR2A	chr16:12035371-12035564	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr16:12038169-12038289	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:12035427-12035589	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:12035076-12035657	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr16:12038059-12038389	GM12892	blood:	n/a	n/a
27	POLR2A	chr16:12029596-12029997	GM12891	blood:	n/a	n/a
28	POLR2A	chr16:12038154-12038346	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:12035297-12035682	GM12878	blood:	n/a	n/a
30	POLR2A	chr16:12035289-12035661	GM12892	blood:	n/a	n/a
31	POLR2A	chr16:12022704-12022980	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:12035411-12035565	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr16:12037169-12037271	ProgFib	skin:	n/a	n/a
34	POLR2A	chr16:12029542-12029927	GM12891	blood:	n/a	n/a
35	POLR2A	chr16:12035426-12035555	GM12878	blood:	n/a	n/a
36	POU2F2	chr16:12024262-12024549	GM12878	blood:	n/a	n/a
37	RCOR1	chr16:12021395-12021483	K562	blood:	n/a	n/a
38	RCOR1	chr16:12041803-12041999	K562	blood:	n/a	n/a
39	SIN3AK20	chr16:12025300-12025389	HepG2	liver:	n/a	n/a
40	TAF1	chr16:12035299-12035584	H1-hESC	embryonic stem cell:	n/a	n/a
41	TBP	chr16:12035454-12035609	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr16:12021346-12021503	GM12878	blood:	n/a	n/a
43	UBTF	chr16:12021319-12021596	K562	blood:	n/a	n/a
44	UBTF	chr16:12021213-12021613	K562	blood:	n/a	n/a
45	USF1	chr16:12024306-12024453	HepG2	liver:	n/a	n/a
46	USF1	chr16:12024335-12024451	HepG2	liver:	n/a	n/a
47	ZBTB33	chr16:12024259-12024447	HepG2	liver:	n/a	n/a
48	ZNF384	chr16:12040315-12040429	K562	blood:	n/a	n/a
49	ZNF384	chr16:12021216-12021416	K562	blood:	n/a	n/a

No data

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSPT1-1	chr16:12023097-12023200	NONHSAT140608
2	lnc-RP11-166B2.1.1-2	chr16:12027480-12027518	NONHSAT140610
3	lnc-GSPT1-1	chr16:12023242-12023494	NONHSAT140609
4	lnc-GSPT1-1	chr16:12022838-12023132	NONHSAT140609
5	lnc-RP11-166B2.1.1-2	chr16:12027682-12027781	NONHSAT140610
6	lnc-RP11-166B2.1.1-2	chr16:12031397-12031525	NONHSAT140610
7	lnc-GSPT1-1	chr16:12021452-12021736	NONHSAT140608

No data

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

Extended variants
information (count: 282 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112824802	chr16:12021275-12021276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60168629	chr16:12021284-12021285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118142732	chr16:12021288-12021289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57225110	chr16:12021292-12021293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60347225	chr16:12021297-12021298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551208131	chr16:12021298-12021299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141584024	chr16:12021310-12021311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530406082	chr16:12021319-12021320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79845530	chr16:12021329-12021330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113445369	chr16:12021331-12021332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs256390	chr16:12021332-12021333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565838037	chr16:12021337-12021338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375815092	chr16:12021341-12021342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116375279	chr16:12021346-12021347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112574008	chr16:12021352-12021353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552215023	chr16:12021383-12021384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71136701	chr16:12021387-12021388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568619596	chr16:12021393-12021394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537602553	chr16:12021395-12021396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554339465	chr16:12021398-12021399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200146217	chr16:12021457-12021458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs533821159	chr16:12021458-12021459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs553810246	chr16:12021465-12021466	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs370684740	chr16:12021477-12021478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs145980981	chr16:12021486-12021487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565342101	chr16:12021497-12021498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs577661186	chr16:12021499-12021500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs575813864	chr16:12021502-12021503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544766302	chr16:12021520-12021521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561449324	chr16:12021565-12021566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201932636	chr16:12021568-12021569	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs530343762	chr16:12021585-12021586	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs544179686	chr16:12021586-12021587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs560635478	chr16:12021609-12021610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs532091746	chr16:12021726-12021727	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs371701036	chr16:12022852-12022853	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs374882977	chr16:12022884-12022885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547916323	chr16:12022933-12022934	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs256387	chr16:12022979-12022980	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs200430589	chr16:12023273-12023274	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs567892686	chr16:12023440-12023441	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs371870152	chr16:12023441-12023442	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs62040797	chr16:12023505-12023506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs533770925	chr16:12023519-12023520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs78395476	chr16:12023542-12023543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs687500	chr16:12023543-12023544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs80094987	chr16:12023553-12023554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs199906866	chr16:12024345-12024346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201218967	chr16:12024360-12024361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575740545	chr16:12024389-12024390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Cancer	17440070	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12021200-12021400	Enhancers	K562	blood
2	chr16:12030000-12030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:12030800-12031000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:12030800-12031600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:12035400-12035800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr16:12038600-12038800	Enhancers	HepG2	liver
7	chr16:12039400-12039800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:12039600-12040000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:12039600-12040400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:12040000-12040200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:12040000-12040400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:12040200-12040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:12040400-12040600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:12040400-12040600	Enhancers	K562	blood
15	chr16:12040400-12041600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
17	chr16:12040600-12041600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:12040600-12042800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:12041600-12041800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:12041600-12042000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:12041600-12042000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:12041600-12042200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:12041600-12042200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:12041600-12042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:12041800-12042000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr16:12041800-12042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:12041800-12042000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:12041800-12042000	Enhancers	A549	lung
29	chr16:12041800-12042000	Bivalent Enhancer	K562	blood
30	chr16:12041800-12042200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:12041800-12042200	Strong transcription	Fetal Stomach	stomach

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