Variant report

Variant	nsv572391
Chromosome Location	chr16:35145957-35228412
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	ARID3A	chr16:35215806-35216177	HepG2	liver:	n/a	n/a
2	ATF1	chr16:35213351-35213381	K562	blood:	n/a	n/a
3	ATF1	chr16:35215804-35216177	K562	blood:	n/a	n/a
4	ATF3	chr16:35215892-35216057	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr16:35219381-35219757	K562	blood:	n/a	n/a
6	BATF	chr16:35215869-35216143	GM12878	blood:	n/a	n/a
7	BATF	chr16:35207170-35207358	GM12878	blood:	n/a	n/a
8	BATF	chr16:35227031-35227310	GM12878	blood:	n/a	n/a
9	BATF	chr16:35215892-35216137	GM12878	blood:	n/a	n/a
10	BATF	chr16:35221097-35221282	GM12878	blood:	n/a	n/a
11	BCL11A	chr16:35215868-35216150	GM12878	blood:	n/a	n/a
12	BCL11A	chr16:35215851-35216131	GM12878	blood:	n/a	n/a
13	BCL11A	chr16:35215903-35216118	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr16:35227094-35227320	HepG2	liver:	n/a	n/a
15	BHLHE40	chr16:35221117-35221448	HepG2	liver:	n/a	n/a
16	BHLHE40	chr16:35205838-35206056	HepG2	liver:	n/a	n/a
17	BHLHE40	chr16:35205751-35206126	K562	blood:	n/a	n/a
18	BHLHE40	chr16:35219381-35219758	K562	blood:	n/a	n/a
19	BRCA1	chr16:35219382-35219758	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr16:35227783-35227810	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr16:35176290-35176458	A549	lung:	n/a	chr16:35176356-35176367
22	CEBPB	chr16:35172122-35172416	HepG2	liver:	n/a	chr16:35172261-35172272
23	CEBPB	chr16:35161877-35162150	IMR90	lung:	n/a	chr16:35161995-35162006
24	CEBPB	chr16:35172127-35172413	A549	lung:	n/a	chr16:35172261-35172272
25	CEBPB	chr16:35203491-35203615	HepG2	liver:	n/a	chr16:35203591-35203602
26	CEBPB	chr16:35155377-35155495	HepG2	liver:	n/a	chr16:35155465-35155476
27	CEBPB	chr16:35176237-35176508	HepG2	liver:	n/a	chr16:35176356-35176367
28	CEBPB	chr16:35219383-35219757	K562	blood:	n/a	n/a
29	CEBPB	chr16:35219383-35219757	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr16:35161867-35162112	A549	lung:	n/a	chr16:35161995-35162006
31	CEBPB	chr16:35183747-35183813	IMR90	lung:	n/a	chr16:35183764-35183775
32	CEBPB	chr16:35196728-35196905	A549	lung:	n/a	n/a
33	CEBPB	chr16:35183614-35183800	HepG2	liver:	n/a	chr16:35183764-35183775
34	CEBPB	chr16:35203543-35203660	A549	lung:	n/a	chr16:35203591-35203602
35	CEBPB	chr16:35210773-35210846	HepG2	liver:	n/a	chr16:35210787-35210798
36	CEBPB	chr16:35161862-35162181	HepG2	liver:	n/a	chr16:35161995-35162006
37	CEBPB	chr16:35215808-35216176	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr16:35215806-35216177	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr16:35222013-35222208	K562	blood:	n/a	n/a
40	CHD2	chr16:35219381-35219758	K562	blood:	n/a	n/a
41	CHD2	chr16:35219382-35219757	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr16:35215809-35216177	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr16:35215799-35216060	K562	blood:	n/a	n/a
44	CTCF	chr16:35180092-35180132	GM20000	blood:	n/a	n/a
45	CTCF	chr16:35219381-35219756	K562	blood:	n/a	n/a
46	CTCF	chr16:35146215-35146327	NHEK	skin:	n/a	n/a
47	CUX1	chr16:35219381-35219758	K562	blood:	n/a	n/a
48	E2F4	chr16:35215808-35216176	GM12878	blood:	n/a	n/a
49	E2F4	chr16:35205718-35206123	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F6	chr16:35215926-35216023	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-36	chr16:35146491-35146887	NONHSAT142249

Variant related genes	Relation type
PPP1R1AP2	TF binding region

Extended variants
information (count: 3571 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:3571 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7206720	chr16:35145957-35145958	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185055656	chr16:35145974-35145975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368167255	chr16:35146000-35146001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572477037	chr16:35146013-35146014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540250812	chr16:35146064-35146065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs564813560	chr16:35146066-35146067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144014929	chr16:35146094-35146095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551680782	chr16:35146125-35146126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563861194	chr16:35146131-35146132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531140463	chr16:35146139-35146140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541761971	chr16:35146159-35146160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549666442	chr16:35146207-35146208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144352099	chr16:35146249-35146250	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs528476974	chr16:35146281-35146282	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547009762	chr16:35146297-35146298	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs190258373	chr16:35146318-35146319	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539075193	chr16:35146319-35146320	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559969150	chr16:35146325-35146326	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557183898	chr16:35146342-35146343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568675581	chr16:35146355-35146356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530345706	chr16:35146376-35146377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546315573	chr16:35146377-35146378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181224989	chr16:35146381-35146382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572836513	chr16:35146389-35146390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539838363	chr16:35146401-35146402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs558571462	chr16:35146416-35146417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576767343	chr16:35146426-35146427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186173035	chr16:35146457-35146458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148739391	chr16:35146463-35146464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368165886	chr16:35146476-35146477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531101679	chr16:35146509-35146510	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs543275639	chr16:35146516-35146517	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs561553998	chr16:35146528-35146529	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs191973775	chr16:35146532-35146533	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs372721478	chr16:35146535-35146536	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs373361335	chr16:35146548-35146549	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs570095049	chr16:35146571-35146572	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs183309942	chr16:35146572-35146573	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs79109235	chr16:35146613-35146614	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs551025823	chr16:35146627-35146628	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs569037446	chr16:35146653-35146654	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs536056994	chr16:35146654-35146655	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs368810718	chr16:35146682-35146683	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs377722700	chr16:35146721-35146722	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs566431268	chr16:35146745-35146746	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs534141316	chr16:35146750-35146751	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs552518317	chr16:35146760-35146761	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs570776116	chr16:35146772-35146773	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs371402942	chr16:35146773-35146774	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs558562212	chr16:35146818-35146819	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Ductal carcinoma	22052326	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
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35139800-35148400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:35161600-35162200	ZNF genes & repeats	Dnd41	blood
3	chr16:35164600-35171800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:35167600-35170000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:35175400-35176200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:35194200-35194600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr16:35197000-35197200	Enhancers	Hela-S3	cervix
8	chr16:35197000-35197200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr16:35197000-35197200	ZNF genes & repeats	NH-A	brain
10	chr16:35197200-35201400	Weak transcription	NH-A	brain
11	chr16:35200800-35208600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr16:35201200-35213200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr16:35201400-35201600	ZNF genes & repeats	NH-A	brain
14	chr16:35201600-35205800	Weak transcription	NH-A	brain
15	chr16:35203600-35205800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:35205600-35208600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr16:35205600-35209200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr16:35205600-35221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:35205800-35206000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:35205800-35206000	ZNF genes & repeats	Small Intestine	intestine
21	chr16:35205800-35206200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr16:35205800-35206200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
23	chr16:35205800-35206200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:35205800-35206200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr16:35205800-35206200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:35205800-35206200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr16:35205800-35206200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:35205800-35206200	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr16:35205800-35206200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr16:35205800-35206200	ZNF genes & repeats	Fetal Lung	lung
31	chr16:35205800-35206200	ZNF genes & repeats	HUVEC	blood vessel
32	chr16:35205800-35206200	ZNF genes & repeats	NH-A	brain
33	chr16:35205800-35206400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr16:35205800-35212200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr16:35206000-35206200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:35206000-35206200	ZNF genes & repeats	HepG2	liver
37	chr16:35206200-35215800	Weak transcription	NH-A	brain
38	chr16:35207400-35208400	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr16:35208600-35210800	ZNF genes & repeats	Liver	Liver
40	chr16:35210400-35210600	ZNF genes & repeats	Brain Angular Gyrus	brain
41	chr16:35210800-35211600	Weak transcription	Liver	Liver
42	chr16:35211600-35213800	ZNF genes & repeats	Liver	Liver
43	chr16:35211600-35221200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr16:35213200-35213600	Active TSS	Aorta	Aorta
45	chr16:35213400-35213600	ZNF genes & repeats	Left Ventricle	heart
46	chr16:35213400-35215800	Weak transcription	Small Intestine	intestine
47	chr16:35213600-35215800	Weak transcription	Aorta	Aorta
48	chr16:35213600-35215800	Weak transcription	Left Ventricle	heart
49	chr16:35214000-35215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:35214400-35216600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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