Variant report

Variant	nsv906638
Chromosome Location	chr16:33870629-33922285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2206)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2206 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:33881018-33881666	K562	blood:	n/a	n/a
2	ARID3A	chr16:33892139-33892507	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:33901370-33901374	HepG2	liver:	n/a	n/a
4	ATF1	chr16:33881172-33881547	K562	blood:	n/a	n/a
5	ATF1	chr16:33894835-33895202	K562	blood:	n/a	n/a
6	ATF1	chr16:33887468-33887983	K562	blood:	n/a	n/a
7	ATF1	chr16:33888415-33888877	K562	blood:	n/a	n/a
8	ATF1	chr16:33897239-33897401	K562	blood:	n/a	n/a
9	ATF1	chr16:33901083-33901942	K562	blood:	n/a	n/a
10	ATF1	chr16:33873877-33874488	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	BACH1	chr16:33898568-33899292	K562	blood:	n/a	n/a
15	BACH1	chr16:33893536-33894076	K562	blood:	n/a	n/a
16	BACH1	chr16:33897806-33898180	K562	blood:	n/a	n/a
17	BACH1	chr16:33922161-33923902	K562	blood:	n/a	n/a
18	BACH1	chr16:33878317-33878646	K562	blood:	n/a	n/a
19	BACH1	chr16:33882407-33882780	K562	blood:	n/a	n/a
20	BATF	chr16:33889778-33891707	GM12878	blood:	n/a	n/a
21	BATF	chr16:33886617-33887161	GM12878	blood:	n/a	n/a
22	BATF	chr16:33879131-33880895	GM12878	blood:	n/a	n/a
23	BATF	chr16:33894776-33898245	GM12878	blood:	n/a	n/a
24	BATF	chr16:33887249-33889708	GM12878	blood:	n/a	n/a
25	BATF	chr16:33887300-33888728	GM12878	blood:	n/a	n/a
26	BATF	chr16:33875367-33876259	GM12878	blood:	n/a	n/a
27	BATF	chr16:33881917-33883249	GM12878	blood:	n/a	n/a
28	BATF	chr16:33877955-33879121	GM12878	blood:	n/a	n/a
29	BATF	chr16:33895519-33897145	GM12878	blood:	n/a	n/a
30	BATF	chr16:33907942-33908196	GM12878	blood:	n/a	n/a
31	BATF	chr16:33899064-33900897	GM12878	blood:	n/a	n/a
32	BATF	chr16:33892544-33893480	GM12878	blood:	n/a	n/a
33	BATF	chr16:33897169-33898148	GM12878	blood:	n/a	n/a
34	BATF	chr16:33913665-33913949	GM12878	blood:	n/a	n/a
35	BATF	chr16:33875433-33876983	GM12878	blood:	n/a	n/a
36	BATF	chr16:33876484-33877068	GM12878	blood:	n/a	n/a
37	BATF	chr16:33894028-33894772	GM12878	blood:	n/a	n/a
38	BATF	chr16:33880945-33881911	GM12878	blood:	n/a	n/a
39	BATF	chr16:33884688-33885990	GM12878	blood:	n/a	n/a
40	BATF	chr16:33873961-33875126	GM12878	blood:	n/a	n/a
41	BATF	chr16:33901075-33902389	GM12878	blood:	n/a	n/a
42	BATF	chr16:33871196-33873362	GM12878	blood:	n/a	n/a
43	BATF	chr16:33882407-33883225	GM12878	blood:	n/a	n/a
44	BATF	chr16:33871808-33872802	GM12878	blood:	n/a	n/a
45	BATF	chr16:33869606-33871000	GM12878	blood:	n/a	n/a
46	BATF	chr16:33901240-33901937	GM12878	blood:	n/a	n/a
47	BATF	chr16:33910292-33910548	GM12878	blood:	n/a	n/a
48	BATF	chr16:33894302-33894717	GM12878	blood:	n/a	n/a
49	BATF	chr16:33898612-33900916	GM12878	blood:	n/a	n/a
50	BATF	chr16:33873918-33875113	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:42387171..42387692-chr16:33888891..33889406,2	MCF-7	breast:
2	chr16:33883354..33883854-chr16:33895502..33896105,2	MCF-7	breast:
3	chr13:95260054..95260733-chr16:33908997..33909498,2	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: 6053 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:6053 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76440933	chr16:33870629-33870630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374651147	chr16:33870630-33870631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs186516175	chr16:33870654-33870655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569774654	chr16:33870660-33870661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531177301	chr16:33870667-33870668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200133956	chr16:33870670-33870671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562947485	chr16:33870675-33870676	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549310404	chr16:33870681-33870682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368205102	chr16:33870682-33870683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111870865	chr16:33870746-33870747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567982871	chr16:33870755-33870756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111716371	chr16:33870760-33870761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs553602793	chr16:33870761-33870762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs62026432	chr16:33870768-33870769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62026433	chr16:33870770-33870771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113393338	chr16:33870780-33870781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62026434	chr16:33870781-33870782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62026435	chr16:33870786-33870787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571266247	chr16:33870797-33870798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538595832	chr16:33870803-33870804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62026436	chr16:33870804-33870805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111956532	chr16:33870835-33870836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557130735	chr16:33870849-33870850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575406223	chr16:33870861-33870862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536473718	chr16:33870862-33870863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554453511	chr16:33870871-33870872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572961711	chr16:33870885-33870886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62026437	chr16:33870887-33870888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62026438	chr16:33870895-33870896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372006814	chr16:33870899-33870900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540181812	chr16:33870900-33870901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62026439	chr16:33870907-33870908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564790572	chr16:33870920-33870921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577624317	chr16:33870921-33870922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375408379	chr16:33870934-33870935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185110804	chr16:33870955-33870956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563488867	chr16:33870956-33870957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530892569	chr16:33870961-33870962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546170883	chr16:33870967-33870968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549421634	chr16:33870976-33870977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7191460	chr16:33870994-33870995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528639462	chr16:33871042-33871043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547323468	chr16:33871053-33871054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62026440	chr16:33871058-33871059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574632566	chr16:33871059-33871060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62026441	chr16:33871062-33871063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376179670	chr16:33871068-33871069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201569351	chr16:33871071-33871072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113527523	chr16:33871075-33871076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571958966	chr16:33871079-33871080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Non-syndromic sensorineural hearing loss	22297974	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33868800-33870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:33868800-33870800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:33868800-33870800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:33868800-33870800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:33868800-33870800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr16:33868800-33870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:33868800-33870800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:33868800-33870800	Weak transcription	Primary T cells from cord blood	blood
9	chr16:33868800-33870800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:33868800-33870800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:33868800-33870800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:33868800-33870800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:33868800-33870800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr16:33868800-33870800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr16:33868800-33870800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:33868800-33870800	Weak transcription	Adipose Nuclei	Adipose
17	chr16:33868800-33870800	Weak transcription	Liver	Liver
18	chr16:33868800-33870800	Weak transcription	Brain Angular Gyrus	brain
19	chr16:33868800-33870800	Weak transcription	Brain Anterior Caudate	brain
20	chr16:33868800-33870800	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:33868800-33870800	Weak transcription	Brain Substantia Nigra	brain
22	chr16:33868800-33870800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:33868800-33870800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:33868800-33870800	Weak transcription	Fetal Brain Male	brain
25	chr16:33868800-33870800	Weak transcription	Fetal Heart	heart
26	chr16:33868800-33870800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:33868800-33870800	Weak transcription	Fetal Lung	lung
28	chr16:33868800-33870800	Weak transcription	Gastric	stomach
29	chr16:33868800-33870800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:33868800-33870800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:33868800-33870800	Weak transcription	Dnd41	blood
32	chr16:33868800-33870800	Weak transcription	GM12878-XiMat	blood
33	chr16:33868800-33870800	Weak transcription	HepG2	liver
34	chr16:33868800-33870800	Weak transcription	HUVEC	blood vessel
35	chr16:33868800-33870800	Weak transcription	K562	blood
36	chr16:33868800-33870800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr16:33868800-33870800	Weak transcription	NH-A	brain
38	chr16:33868800-33871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:33868800-33871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:33868800-33871000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:33868800-33871000	Weak transcription	Fetal Kidney	kidney
42	chr16:33868800-33871000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr16:33868800-33871200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:33868800-33871200	Weak transcription	Aorta	Aorta
45	chr16:33868800-33871200	Weak transcription	Colon Smooth Muscle	Colon
46	chr16:33868800-33871200	Weak transcription	Stomach Mucosa	stomach
47	chr16:33868800-33871200	Weak transcription	NHLF	lung
48	chr16:33868800-33871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:33868800-33871400	Weak transcription	NHEK	skin
50	chr16:33868800-33871600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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