Variant report

Variant	nsv906630
Chromosome Location	chr16:33863129-33922285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3093)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3093 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:33892139-33892507	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:33881018-33881666	K562	blood:	n/a	n/a
3	ARID3A	chr16:33866004-33866743	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:33901370-33901374	HepG2	liver:	n/a	n/a
5	ATF1	chr16:33881172-33881547	K562	blood:	n/a	n/a
6	ATF1	chr16:33897239-33897401	K562	blood:	n/a	n/a
7	ATF1	chr16:33868495-33868781	K562	blood:	n/a	n/a
8	ATF1	chr16:33888415-33888877	K562	blood:	n/a	n/a
9	ATF1	chr16:33873877-33874488	K562	blood:	n/a	n/a
10	ATF1	chr16:33887468-33887983	K562	blood:	n/a	n/a
11	ATF1	chr16:33892137-33892513	K562	blood:	n/a	n/a
12	ATF1	chr16:33899829-33900096	K562	blood:	n/a	n/a
13	ATF1	chr16:33876587-33876956	K562	blood:	n/a	n/a
14	ATF1	chr16:33901083-33901942	K562	blood:	n/a	n/a
15	ATF1	chr16:33867010-33867345	K562	blood:	n/a	n/a
16	ATF1	chr16:33864913-33866753	K562	blood:	n/a	n/a
17	ATF1	chr16:33894835-33895202	K562	blood:	n/a	n/a
18	ATF3	chr16:33865448-33865613	K562	blood:	n/a	n/a
19	ATF3	chr16:33866335-33866504	K562	blood:	n/a	n/a
20	ATF3	chr16:33865168-33865377	K562	blood:	n/a	n/a
21	BACH1	chr16:33893536-33894076	K562	blood:	n/a	n/a
22	BACH1	chr16:33878317-33878646	K562	blood:	n/a	n/a
23	BACH1	chr16:33882407-33882780	K562	blood:	n/a	n/a
24	BACH1	chr16:33922161-33923902	K562	blood:	n/a	n/a
25	BACH1	chr16:33898568-33899292	K562	blood:	n/a	n/a
26	BACH1	chr16:33897806-33898180	K562	blood:	n/a	n/a
27	BATF	chr16:33869540-33870442	GM12878	blood:	n/a	n/a
28	BATF	chr16:33899064-33900897	GM12878	blood:	n/a	n/a
29	BATF	chr16:33887249-33889708	GM12878	blood:	n/a	n/a
30	BATF	chr16:33894302-33894717	GM12878	blood:	n/a	n/a
31	BATF	chr16:33882407-33883225	GM12878	blood:	n/a	n/a
32	BATF	chr16:33864424-33867460	GM12878	blood:	n/a	n/a
33	BATF	chr16:33866819-33867461	GM12878	blood:	n/a	n/a
34	BATF	chr16:33867583-33868446	GM12878	blood:	n/a	n/a
35	BATF	chr16:33876484-33877068	GM12878	blood:	n/a	n/a
36	BATF	chr16:33889778-33891707	GM12878	blood:	n/a	n/a
37	BATF	chr16:33881917-33883249	GM12878	blood:	n/a	n/a
38	BATF	chr16:33907942-33908196	GM12878	blood:	n/a	n/a
39	BATF	chr16:33887300-33888728	GM12878	blood:	n/a	n/a
40	BATF	chr16:33897169-33898148	GM12878	blood:	n/a	n/a
41	BATF	chr16:33877955-33879121	GM12878	blood:	n/a	n/a
42	BATF	chr16:33880912-33881916	GM12878	blood:	n/a	n/a
43	BATF	chr16:33875433-33876983	GM12878	blood:	n/a	n/a
44	BATF	chr16:33864717-33866793	GM12878	blood:	n/a	n/a
45	BATF	chr16:33895519-33897145	GM12878	blood:	n/a	n/a
46	BATF	chr16:33879131-33880895	GM12878	blood:	n/a	n/a
47	BATF	chr16:33867631-33869299	GM12878	blood:	n/a	n/a
48	BATF	chr16:33910292-33910548	GM12878	blood:	n/a	n/a
49	BATF	chr16:33886617-33887161	GM12878	blood:	n/a	n/a
50	BATF	chr16:33871196-33873362	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:95260054..95260733-chr16:33908997..33909498,2	MCF-7	breast:
2	chr10:42387171..42387692-chr16:33888891..33889406,2	MCF-7	breast:
3	chr16:33883354..33883854-chr16:33895502..33896105,2	MCF-7	breast:
4	chr16:33883354..33883854-chr16:33895502..33896105,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000262561	TF binding region

Extended variants
information (count: 7005 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:7005 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551320883	chr16:33863129-33863130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201228292	chr16:33863130-33863131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201267377	chr16:33863134-33863135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553478443	chr16:33863152-33863153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530694472	chr16:33863166-33863167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367924374	chr16:33863168-33863169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112202331	chr16:33863170-33863171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113904185	chr16:33863176-33863177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373527516	chr16:33863181-33863182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113459321	chr16:33863188-33863189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374833179	chr16:33863189-33863190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376425715	chr16:33863205-33863206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369645591	chr16:33863213-33863214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373184434	chr16:33863216-33863217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370364821	chr16:33863230-33863231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202026596	chr16:33863233-33863234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371813815	chr16:33863244-33863245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143965903	chr16:33863251-33863252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34087168	chr16:33863252-33863253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149179303	chr16:33863257-33863258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62041873	chr16:33863258-33863259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138291656	chr16:33863264-33863265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201798223	chr16:33863267-33863268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375851455	chr16:33863271-33863272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62041874	chr16:33863286-33863287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62041875	chr16:33863300-33863301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572836170	chr16:33863313-33863314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370186193	chr16:33863385-33863386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535890650	chr16:33863401-33863402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554131231	chr16:33863416-33863417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200254269	chr16:33863432-33863433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539908484	chr16:33863442-33863443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113414307	chr16:33863464-33863465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7498899	chr16:33863472-33863473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376162964	chr16:33863490-33863491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370521064	chr16:33863496-33863497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374578052	chr16:33863497-33863498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187557733	chr16:33863498-33863499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79248390	chr16:33863499-33863500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376314996	chr16:33863508-33863509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370390025	chr16:33863509-33863510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555651489	chr16:33863515-33863516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376251945	chr16:33863516-33863517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554882773	chr16:33863518-33863519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368487436	chr16:33863519-33863520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372618911	chr16:33863523-33863524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375737238	chr16:33863543-33863544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576428421	chr16:33863545-33863546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368158671	chr16:33863547-33863548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543609580	chr16:33863564-33863565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33862400-33864600	Weak transcription	Esophagus	oesophagus
2	chr16:33864400-33868800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:33864400-33868800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:33864600-33868800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:33864600-33868800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr16:33864600-33868800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:33864600-33868800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr16:33864600-33868800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr16:33864600-33868800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
10	chr16:33864600-33868800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr16:33864600-33868800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr16:33864600-33868800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr16:33864600-33868800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr16:33864600-33868800	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr16:33864600-33868800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:33864600-33868800	ZNF genes & repeats	Colonic Mucosa	Colon
17	chr16:33864600-33868800	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr16:33864600-33868800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr16:33864600-33868800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr16:33864600-33868800	ZNF genes & repeats	Esophagus	oesophagus
21	chr16:33864600-33868800	ZNF genes & repeats	Fetal Kidney	kidney
22	chr16:33864600-33868800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr16:33864600-33868800	ZNF genes & repeats	Gastric	stomach
24	chr16:33864600-33868800	ZNF genes & repeats	Dnd41	blood
25	chr16:33864600-33868800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr16:33864800-33866800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:33864800-33866800	ZNF genes & repeats	HSMMtube	muscle
28	chr16:33864800-33866800	ZNF genes & repeats	NHEK	skin
29	chr16:33864800-33868600	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr16:33864800-33868600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr16:33864800-33868600	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr16:33864800-33868600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr16:33864800-33868600	ZNF genes & repeats	Lung	lung
34	chr16:33864800-33868600	ZNF genes & repeats	Hela-S3	cervix
35	chr16:33864800-33868800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr16:33864800-33868800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr16:33864800-33868800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:33864800-33868800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:33864800-33868800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:33864800-33868800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:33864800-33868800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:33864800-33868800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:33864800-33868800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:33864800-33868800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr16:33864800-33868800	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr16:33864800-33868800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
47	chr16:33864800-33868800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr16:33864800-33868800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr16:33864800-33868800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr16:33864800-33868800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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