Variant report

Variant	nsv437446
Chromosome Location	chr2:51651243-51665387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:51651629-51651847	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr2:51651600-51651750	BE2_C	brain:	n/a	n/a
3	CTCF	chr2:51651640-51651790	AG04449	skin:	n/a	n/a
4	CTCF	chr2:51651680-51651830	AG04449	skin:	n/a	n/a
5	CTCF	chr2:51651660-51651810	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr2:51651607-51651870	Gliobla	brain:	n/a	n/a
7	CTCF	chr2:51651700-51651850	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr2:51651940-51652090	A549	lung:	n/a	n/a
9	CTCF	chr2:51651620-51651770	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr2:51664014-51664109	GM10248	blood:	n/a	n/a
11	CTCF	chr2:51651620-51651770	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr2:51651580-51651730	HCT-116	colon:	n/a	n/a
13	CTCF	chr2:51651700-51651850	HCT-116	colon:	n/a	n/a
14	CTCF	chr2:51651640-51651790	HEK293	kidney:	n/a	n/a
15	CTCF	chr2:51651654-51651829	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:51651644-51651832	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:51651660-51651810	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr2:51651600-51651750	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:51651600-51651750	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr2:51651660-51651810	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr2:51651605-51651888	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr2:51651580-51651730	BE2_C	brain:	n/a	n/a
23	CTCF	chr2:51651730-51651770	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr2:51651732-51651804	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:51651620-51651770	A549	lung:	n/a	n/a
26	CTCF	chr2:51651565-51651911	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:51651620-51651770	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr2:51651746-51651797	HepG2	liver:	n/a	n/a
29	CTCF	chr2:51651660-51651810	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr2:51651557-51651940	IMR90	lung:	n/a	n/a
31	CTCF	chr2:51651660-51651810	GM12873	blood:	n/a	n/a
32	CTCF	chr2:51651700-51651850	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr2:51651640-51651790	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr2:51651673-51651802	A549	lung:	n/a	n/a
35	CTCF	chr2:51651860-51652010	GM12871	blood:	n/a	n/a
36	CTCF	chr2:51651640-51651790	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr2:51651630-51651841	ProgFib	skin:	n/a	n/a
38	CTCF	chr2:51651677-51651815	GM12891	blood:	n/a	n/a
39	CTCF	chr2:51651646-51651818	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr2:51651640-51651790	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr2:51651660-51651810	NHEK	skin:	n/a	n/a
42	CTCF	chr2:51651680-51651830	HCFaa	heart:	n/a	n/a
43	CTCF	chr2:51651625-51651835	GM12878	blood:	n/a	n/a
44	CTCF	chr2:51651620-51651770	HepG2	liver:	n/a	n/a
45	CTCF	chr2:51651600-51651750	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr2:51651680-51651830	HMEC	breast:	n/a	n/a
47	CTCF	chr2:51651678-51651761	MCF-7	breast:	n/a	n/a
48	E2F4	chr2:51660767-51660904	MCF10A-Er-Src	breast:	n/a	n/a
49	GATA3	chr2:51665276-51665462	SH-SY5Y	brain:	n/a	n/a
50	GTF2F1	chr2:51651753-51651796	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51664217-51674289..2:51908308-51914662	H1-hESC	embryonic stem cell:	embryo
2	2:51664217-51674289..2:52112664-52117037	K562	blood:
3	2:51664217-51674289..2:52034460-52043624	GM12878	blood:
4	2:51664217-51674289..2:51974300-51979334	H1-hESC	embryonic stem cell:	embryo
5	2:51664217-51674289..2:51674430-51675236	H1-hESC	embryonic stem cell:	embryo
6	2:51664217-51674289..2:51745267-51754233	H1-hESC	embryonic stem cell:	embryo
7	2:51664217-51674289..2:51764739-51769547	H1-hESC	embryonic stem cell:	embryo
8	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
9	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
10	2:51664217-51674289..2:52132828-52140118	H1-hESC	embryonic stem cell:	embryo
11	2:51664217-51674289..2:51983874-51990011	GM12878	blood:
12	2:51664217-51674289..2:52100874-52104046	H1-hESC	embryonic stem cell:	embryo
13	chr2:51656541..51659488-chr2:51660132..51662830,2	K562	blood:
14	2:51664217-51674289..2:51733860-51734854	H1-hESC	embryonic stem cell:	embryo
15	2:51664217-51674289..2:52006946-52008886	H1-hESC	embryonic stem cell:	embryo
16	2:51664217-51674289..2:51942985-51943865	H1-hESC	embryonic stem cell:	embryo
17	2:51664217-51674289..2:51887872-51889464	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000222692	TF binding region
ENSG00000222692	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183458700	chr2:51651822-51651823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs115089973	chr2:51651856-51651857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573227308	chr2:51651865-51651866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540447318	chr2:51651874-51651875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561715439	chr2:51651904-51651905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558883433	chr2:51651905-51651906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115821081	chr2:51651938-51651939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs114311624	chr2:51651945-51651946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562734459	chr2:51651947-51651948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs10209399	chr2:51651967-51651968	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs139535479	chr2:51651974-51651975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538367254	chr2:51652007-51652008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs116741058	chr2:51652008-51652009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530605557	chr2:51652024-51652025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs74670993	chr2:51652035-51652036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78614121	chr2:51652082-51652083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188469289	chr2:51652114-51652115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557240392	chr2:51652131-51652132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs575497427	chr2:51652198-51652199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574032840	chr2:51656542-51656543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531774163	chr2:51656545-51656546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs193146244	chr2:51656577-51656578	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530352634	chr2:51656629-51656630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79532272	chr2:51656651-51656652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185714260	chr2:51656689-51656690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116694491	chr2:51656692-51656693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560018897	chr2:51656697-51656698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533511035	chr2:51656740-51656741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546918466	chr2:51656765-51656766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375425108	chr2:51656789-51656790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189350391	chr2:51656801-51656802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116321038	chr2:51656839-51656840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79457722	chr2:51656847-51656848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551348983	chr2:51656849-51656850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569171586	chr2:51656864-51656865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371561528	chr2:51656875-51656876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539468290	chr2:51656903-51656904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376932176	chr2:51656929-51656930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566884906	chr2:51656930-51656931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs72887322	chr2:51656946-51656947	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555852941	chr2:51657000-51657001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573892950	chr2:51657006-51657007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544389328	chr2:51657009-51657010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556520281	chr2:51657010-51657011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577847059	chr2:51657022-51657023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181718471	chr2:51657056-51657057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375767465	chr2:51657075-51657076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114864031	chr2:51657082-51657083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527440926	chr2:51657092-51657093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116289328	chr2:51657122-51657123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51651800-51652200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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