Variant report

Variant	nsv905333
Chromosome Location	chr16:10055461-10079124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr16:10060496-10061092	GM12878	blood:	n/a	n/a
2	ATF2	chr16:10060550-10061073	GM12878	blood:	n/a	n/a
3	BATF	chr16:10060604-10061028	GM12878	blood:	n/a	chr16:10060809-10060820
4	BATF	chr16:10060558-10061053	GM12878	blood:	n/a	chr16:10060809-10060820
5	BATF	chr16:10072028-10072329	GM12878	blood:	n/a	n/a
6	BCL11A	chr16:10060600-10060965	GM12878	blood:	n/a	chr16:10060809-10060818
7	BCL11A	chr16:10060595-10061068	GM12878	blood:	n/a	chr16:10060809-10060818
8	BCL3	chr16:10060560-10061055	GM12878	blood:	n/a	chr16:10060809-10060818
9	CEBPB	chr16:10058076-10058078	HepG2	liver:	n/a	n/a
10	CTCF	chr16:10060460-10060610	GM12864	blood:	n/a	n/a
11	CTCF	chr16:10063566-10063606	K562	blood:	n/a	n/a
12	CTCF	chr16:10063580-10063730	GM12871	blood:	n/a	n/a
13	CTCF	chr16:10063508-10063651	GM19238	blood:	n/a	n/a
14	CTCF	chr16:10063540-10063690	GM12873	blood:	n/a	n/a
15	CTCF	chr16:10063496-10063673	MCF-7	breast:	n/a	n/a
16	CTCF	chr16:10063540-10063690	GM12869	blood:	n/a	n/a
17	CTCF	chr16:10063531-10063631	GM12892	blood:	n/a	n/a
18	CTCF	chr16:10063540-10063690	GM12867	blood:	n/a	n/a
19	CTCF	chr16:10063500-10063650	NHEK	skin:	n/a	n/a
20	CTCF	chr16:10068471-10068574	Lung_OC	lung:	n/a	n/a
21	CTCF	chr16:10063473-10063691	MCF-7	breast:	n/a	n/a
22	CTCF	chr16:10063500-10063650	MCF-7	breast:	n/a	n/a
23	CTCF	chr16:10063520-10063670	GM12874	blood:	n/a	n/a
24	CTCF	chr16:10063521-10063656	GM12891	blood:	n/a	n/a
25	CTCF	chr16:10063497-10063673	MCF-7	breast:	n/a	n/a
26	CTCF	chr16:10063540-10063690	GM12874	blood:	n/a	n/a
27	CTCF	chr16:10068283-10068299	GM10248	blood:	n/a	n/a
28	CTCF	chr16:10063440-10063710	HCT-116	colon:	n/a	n/a
29	CTCF	chr16:10063460-10063610	RPTEC	kidney:	n/a	n/a
30	CTCF	chr16:10063491-10063668	MCF-7	breast:	n/a	n/a
31	CTCF	chr16:10063377-10063699	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr16:10063540-10063690	GM06990	blood:	n/a	n/a
33	CTCF	chr16:10063500-10063650	GM12865	blood:	n/a	n/a
34	CTCF	chr16:10063555-10063621	A549	lung:	n/a	n/a
35	CTCF	chr16:10063503-10063638	ProgFib	skin:	n/a	n/a
36	CTCF	chr16:10063440-10063590	GM12865	blood:	n/a	n/a
37	CTCF	chr16:10063509-10063698	GM12878	blood:	n/a	n/a
38	CTCF	chr16:10063540-10063690	GM12864	blood:	n/a	n/a
39	CTCF	chr16:10063620-10063770	RPTEC	kidney:	n/a	n/a
40	CTCF	chr16:10063502-10063660	GM19239	blood:	n/a	n/a
41	CTCF	chr16:10063500-10063650	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr16:10060560-10060710	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr16:10063528-10063640	GM19240	blood:	n/a	n/a
44	CTCF	chr16:10068110-10068163	GM13976	blood:	n/a	n/a
45	CTCF	chr16:10066546-10066595	GM20000	blood:	n/a	n/a
46	CTCF	chr16:10063540-10063690	GM12878	blood:	n/a	n/a
47	CTCF	chr16:10063483-10063674	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr16:10063413-10063741	GM12878	blood:	n/a	n/a
49	CTCF	chr16:10063540-10063690	GM12875	blood:	n/a	n/a
50	CTCF	chr16:10063520-10063670	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:10065222-10065272	AG09319	gingival:	n/a
2	chr16:10065222-10065272	BJ	skin:	n/a
3	chr16:10065222-10065272	PFSK-1	brain:	n/a
4	chr16:10065222-10065272	Hepatocyte	liver:	n/a
5	chr16:10065222-10065272	HCPEpiC	choroid plexus:	n/a
6	chr16:10065222-10065272	T-47D	breast:	n/a
7	chr16:10065222-10065272	GM06990	blood:	n/a
8	chr16:10065222-10065272	AG04450	lung:	fetal
9	chr16:10065222-10065272	HMEC	breast:	n/a
10	chr16:10065222-10065272	RPTEC	kidney:	n/a
11	chr16:10065222-10065272	AG10803	skin:	n/a
12	chr16:10065222-10065272	LNCaP	prostate:	n/a
13	chr16:10065222-10065272	GM12891	blood:	n/a
14	chr16:10065222-10065272	AG04449	skin:	fetal
15	chr16:10065222-10065272	HCF	heart:	n/a
16	chr16:10065222-10065272	Caco-2	colon:	n/a
17	chr16:10065222-10065272	HRCEpiC	kidney:	n/a
18	chr16:10065222-10065272	NT2-D1	testis:	n/a
19	chr16:10065222-10065272	HNPCEpiC	eye:	n/a
20	chr16:10065222-10065272	HAEpiC	amniotic membrane:	n/a
21	chr16:10065222-10065272	HCT-116	colon:	n/a
22	chr16:10065222-10065272	HL-60	blood:	n/a
23	chr16:10065222-10065272	MCF10A-Er-Src	breast:	n/a
24	chr16:10065222-10065272	ECC-1	luminal epithelium:	n/a
25	chr16:10065222-10065272	NB4	blood:	n/a
26	chr16:10065222-10065272	H1-hESC	embryonic stem cell:	embryo
27	chr16:10065222-10065272	NH-A	brain:	n/a
28	chr16:10065222-10065272	HCM	heart:	n/a
29	chr16:10065222-10065272	SKMC	muscle:	n/a
30	chr16:10065222-10065272	HEEpiC	esophagus:	n/a
31	chr16:10065222-10065272	U87	brain:	n/a
32	chr16:10065222-10065272	NHDF-neo	bronchial:	n/a
33	chr16:10065222-10065272	GM12878	blood:	n/a
34	chr16:10065222-10065272	SK-N-MC	brain:	n/a
35	chr16:10065222-10065272	GM12892	blood:	n/a
36	chr16:10065222-10065272	MCF-7	breast:	n/a
37	chr16:10065222-10065272	HUVEC	blood vessel:	n/a
38	chr16:10065222-10065272	NHBE	bronchial:	n/a
39	chr16:10065222-10065272	AG09309	skin:	n/a
40	chr16:10065222-10065272	HPAEpiC	pulmonary alveolar:	n/a
41	chr16:10065222-10065272	CMK	blood:	n/a
42	chr16:10065222-10065272	Hela-S3	cervix:	n/a
43	chr16:10065222-10065272	Jurkat	blood:	n/a
44	chr16:10065222-10065272	HIPEpiC	eye:	n/a
45	chr16:10065222-10065272	A549	lung:	n/a
46	chr16:10065222-10065272	PANC-1	pancreas:	n/a
47	chr16:10065222-10065272	HepG2	liver:	n/a
48	chr16:10065222-10065272	BE2_C	brain:	n/a
49	chr16:10065222-10065272	HRPEpiC	eye:	n/a
50	chr16:10065222-10065272	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:10047500..10049676-chr16:10053881..10056664,2	K562	blood:
2	chr16:10063290..10063905-chrX:113637091..113637996,2	MCF-7	breast:

No data

Variant related genes	Relation type
GRIN2A	TF binding region
GRIN2A	CpG island

Extended variants
information (count: 1047 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1047 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9925439	chr16:10055461-10055462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139144332	chr16:10055464-10055465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376873915	chr16:10055471-10055472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115955333	chr16:10055502-10055503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557211056	chr16:10055509-10055510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78186053	chr16:10055564-10055565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537553345	chr16:10055583-10055584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557302685	chr16:10055590-10055591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147048084	chr16:10055654-10055655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398119221	chr16:10055660-10055661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9932694	chr16:10055663-10055664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185813624	chr16:10055673-10055674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570529608	chr16:10055688-10055689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553723472	chr16:10055716-10055717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573528137	chr16:10055766-10055767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541034915	chr16:10055777-10055778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557723627	chr16:10055792-10055793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11859983	chr16:10055811-10055812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539253547	chr16:10055813-10055814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145470911	chr16:10055858-10055859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563371258	chr16:10055919-10055920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529076150	chr16:10055955-10055956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542367300	chr16:10055972-10055973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145147112	chr16:10056005-10056006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11864658	chr16:10056006-10056007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551533658	chr16:10056014-10056015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571598175	chr16:10056015-10056016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530944657	chr16:10056020-10056021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551071112	chr16:10056033-10056034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567732359	chr16:10056035-10056036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536840003	chr16:10056064-10056065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190383801	chr16:10056105-10056106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376522870	chr16:10056112-10056113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567208621	chr16:10056120-10056121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11860937	chr16:10056122-10056123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557496686	chr16:10056187-10056188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577549599	chr16:10056208-10056209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543014808	chr16:10056232-10056233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557024492	chr16:10056245-10056246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573362349	chr16:10056273-10056274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542454936	chr16:10056298-10056299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181842065	chr16:10056306-10056307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13332210	chr16:10056313-10056314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545274937	chr16:10056330-10056331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371069008	chr16:10056334-10056335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530958322	chr16:10056343-10056344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550651556	chr16:10056351-10056352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561375008	chr16:10056480-10056481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530205777	chr16:10056486-10056487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547259138	chr16:10056497-10056498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
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
Hodgkin''s lymphoma	17606441	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
Disease	22487416	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:10049000-10063000	Weak transcription	Brain Angular Gyrus	brain
2	chr16:10051000-10059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:10057600-10057800	Enhancers	Brain Substantia Nigra	brain
4	chr16:10057800-10058000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:10058000-10063800	Weak transcription	Aorta	Aorta
6	chr16:10058600-10058800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr16:10058800-10059000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr16:10058800-10059400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:10059000-10059400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr16:10059000-10059600	Enhancers	Brain Anterior Caudate	brain
11	chr16:10059000-10059600	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:10059400-10059600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr16:10059400-10059800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr16:10059400-10059800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:10059600-10063200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:10059600-10063800	Weak transcription	Brain Anterior Caudate	brain
17	chr16:10059600-10068000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:10059800-10060000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr16:10060000-10063000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:10060200-10061400	Enhancers	GM12878-XiMat	blood
21	chr16:10060400-10060800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:10063000-10063200	Enhancers	Brain Angular Gyrus	brain
23	chr16:10063000-10064000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr16:10063000-10065800	Enhancers	Brain Hippocampus Middle	brain
25	chr16:10063000-10066400	Enhancers	Brain Substantia Nigra	brain
26	chr16:10063200-10063600	Weak transcription	Brain Angular Gyrus	brain
27	chr16:10063200-10064000	Enhancers	Brain Cingulate Gyrus	brain
28	chr16:10063400-10063600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:10063400-10063800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:10063600-10066200	Enhancers	Brain Angular Gyrus	brain
31	chr16:10063800-10066400	Enhancers	Brain Anterior Caudate	brain
32	chr16:10063800-10069200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:10064000-10065000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:10064000-10065000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:10064600-10065200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr16:10064600-10065400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr16:10064600-10065400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr16:10064800-10065000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr16:10064800-10066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:10065000-10065200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr16:10065000-10065400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr16:10065000-10065600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
43	chr16:10065000-10066200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr16:10065000-10066400	Enhancers	Brain Cingulate Gyrus	brain
45	chr16:10065200-10065400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr16:10065200-10065400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:10065200-10066800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr16:10065200-10066800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr16:10065200-10067200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr16:10065400-10065800	Enhancers	HUES48 Cell Line	embryonic stem cell

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