Variant report

Variant	nsv933706
Chromosome Location	chr2:50755312-50765504
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	chr2:50756786-50757088	HepG2	liver:	n/a	chr2:50757036-50757052 chr2:50757037-50757053
2	BRCA1	chr2:50756704-50757012	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:50762865-50763095	HepG2	liver:	n/a	chr2:50762947-50762958
4	CTCF	chr2:50756840-50756990	HCPEpiC	choroid plexus:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
5	CTCF	chr2:50763660-50763810	HAc	cerebellar:	n/a	n/a
6	CTCF	chr2:50756802-50757065	K562	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
7	CTCF	chr2:50756742-50757130	A549	lung:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
8	CTCF	chr2:50756800-50756950	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr2:50763545-50763788	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr2:50756849-50757028	GM20000	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
11	CTCF	chr2:50756840-50756990	Caco-2	colon:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
12	CTCF	chr2:50756860-50757010	GM12870	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
13	CTCF	chr2:50756860-50757010	NB4	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
14	CTCF	chr2:50756880-50757030	GM12874	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
15	CTCF	chr2:50763580-50763730	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr2:50763560-50763710	GM12873	blood:	n/a	n/a
17	CTCF	chr2:50763600-50763750	GM12871	blood:	n/a	n/a
18	CTCF	chr2:50756860-50757010	AG04450	lung:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
19	CTCF	chr2:50756831-50757038	LNCaP	prostate:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
20	CTCF	chr2:50763570-50763768	LNCaP	prostate:	n/a	n/a
21	CTCF	chr2:50756780-50756930	GM12869	blood:	n/a	n/a
22	CTCF	chr2:50756880-50757030	GM12864	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
23	CTCF	chr2:50757100-50757250	GM12801	blood:	n/a	n/a
24	CTCF	chr2:50756820-50756970	A549	lung:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
25	CTCF	chr2:50763600-50763750	SAEC	small airway:	n/a	n/a
26	CTCF	chr2:50763220-50763370	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr2:50756840-50756990	HEK293	kidney:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
28	CTCF	chr2:50763280-50763430	NHEK	skin:	n/a	n/a
29	CTCF	chr2:50763300-50763450	GM12870	blood:	n/a	n/a
30	CTCF	chr2:50756800-50756950	RPTEC	kidney:	n/a	n/a
31	CTCF	chr2:50756689-50757192	SK-N-SH	brain:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
32	CTCF	chr2:50763562-50763727	GM13976	blood:	n/a	n/a
33	CTCF	chr2:50756880-50757030	GM12871	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
34	CTCF	chr2:50763580-50763730	HCFaa	heart:	n/a	n/a
35	CTCF	chr2:50756840-50756990	NHDF-neo	bronchial:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
36	CTCF	chr2:50756860-50757010	HPF	lung:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
37	CTCF	chr2:50763580-50763730	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr2:50756840-50756990	HPF	lung:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
39	CTCF	chr2:50756732-50757065	MCF-7	breast:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
40	CTCF	chr2:50756840-50756990	GM12873	blood:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
41	CTCF	chr2:50763580-50763730	HCT-116	colon:	n/a	n/a
42	CTCF	chr2:50763680-50763830	BE2_C	brain:	n/a	n/a
43	CTCF	chr2:50763626-50763776	NHEK	skin:	n/a	n/a
44	CTCF	chr2:50763640-50763790	AG09319	gingival:	n/a	n/a
45	CTCF	chr2:50763580-50763730	NB4	blood:	n/a	n/a
46	CTCF	chr2:50756860-50757010	HVMF	connective:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
47	CTCF	chr2:50763581-50763773	HepG2	liver:	n/a	n/a
48	CTCF	chr2:50756822-50757085	A549	lung:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
49	CTCF	chr2:50756820-50756970	HepG2	liver:	n/a	chr2:50756940-50756958 chr2:50756945-50756953 chr2:50756942-50756963
50	CTCF	chr2:50763591-50763733	Spleen_OC	spleen:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:50758404..50760050-chr2:50762279..50764989,2	K562	blood:
2	chr2:50758404..50760050-chr2:50762279..50764989,2	K562	blood:
3	chr2:50763606..50764181-chr2:52224822..52225393,2	MCF-7	breast:
4	chr2:50756714..50757394-chr2:52022672..52023233,2	MCF-7	breast:

Variant related genes	Relation type
NRXN1	TF binding region

Extended variants
information (count: 439 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184906268	chr2:50755359-50755360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5831130	chr2:50755379-50755380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3052538	chr2:50755388-50755389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188447420	chr2:50755390-50755391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180678500	chr2:50755396-50755397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529978736	chr2:50755442-50755443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375557513	chr2:50755463-50755464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs741351	chr2:50755476-50755477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563131498	chr2:50755576-50755577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150029967	chr2:50755599-50755600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531736665	chr2:50755606-50755607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549814984	chr2:50755638-50755639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571324999	chr2:50755639-50755640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200753407	chr2:50755723-50755724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201696857	chr2:50755739-50755740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199912761	chr2:50755745-50755746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369863435	chr2:50755751-50755752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201727319	chr2:50755767-50755768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200610894	chr2:50755771-50755772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200643676	chr2:50755780-50755781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202042280	chr2:50755784-50755785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200007912	chr2:50755799-50755800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200878015	chr2:50755802-50755803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536942114	chr2:50755815-50755816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201389007	chr2:50755826-50755827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200144333	chr2:50755835-50755836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185781984	chr2:50755910-50755911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537154855	chr2:50755956-50755957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558650611	chr2:50755967-50755968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576793317	chr2:50755968-50755969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191285757	chr2:50756058-50756059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181222791	chr2:50756110-50756111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370173430	chr2:50756112-50756113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574683789	chr2:50756114-50756115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77015115	chr2:50756125-50756126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563144047	chr2:50756157-50756158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530870788	chr2:50756165-50756166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148594973	chr2:50756169-50756170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187073030	chr2:50756183-50756184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191557573	chr2:50756185-50756186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532623911	chr2:50756187-50756188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547517648	chr2:50756199-50756200	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs17040790	chr2:50756210-50756211	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530332713	chr2:50756212-50756213	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs115321796	chr2:50756285-50756286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570276682	chr2:50756293-50756294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183420042	chr2:50756299-50756300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570536954	chr2:50756305-50756306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77911572	chr2:50756315-50756316	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534706327	chr2:50756326-50756327	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	21364760	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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50753200-50756600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:50753400-50756200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:50754000-50763200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:50754000-50763400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:50755800-50756000	Enhancers	Fetal Brain Female	brain
6	chr2:50756000-50759800	Weak transcription	Fetal Brain Female	brain
7	chr2:50756200-50756800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:50756400-50756800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:50756400-50756800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:50756400-50757000	Enhancers	Brain Anterior Caudate	brain
11	chr2:50756600-50757000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:50756600-50757000	Enhancers	Brain Germinal Matrix	brain
13	chr2:50756600-50757000	Enhancers	Hela-S3	cervix
14	chr2:50756800-50757000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:50756800-50759600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:50757000-50758200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:50757000-50760600	Weak transcription	Brain Germinal Matrix	brain
18	chr2:50757000-50763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:50758400-50758600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:50759200-50760000	Enhancers	Fetal Brain Male	brain
21	chr2:50759600-50763200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:50759800-50760400	Enhancers	Fetal Brain Female	brain
23	chr2:50759800-50777400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:50760000-50761000	Weak transcription	Fetal Brain Male	brain
25	chr2:50760400-50761400	Weak transcription	Fetal Brain Female	brain
26	chr2:50760600-50760800	Enhancers	Brain Germinal Matrix	brain
27	chr2:50760600-50761000	Enhancers	Liver	Liver
28	chr2:50760800-50761200	Weak transcription	Brain Germinal Matrix	brain
29	chr2:50760800-50763200	Weak transcription	Brain Anterior Caudate	brain
30	chr2:50761000-50762000	Weak transcription	Liver	Liver
31	chr2:50761000-50764000	Enhancers	Fetal Brain Male	brain
32	chr2:50761200-50764000	Enhancers	Brain Germinal Matrix	brain
33	chr2:50761400-50763800	Enhancers	Fetal Brain Female	brain
34	chr2:50762200-50762400	Enhancers	Liver	Liver
35	chr2:50762800-50766400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:50763200-50763400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:50763200-50763400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr2:50763200-50763600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:50763200-50763600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:50763200-50763600	Enhancers	NHEK	skin
41	chr2:50763200-50763800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:50763200-50763800	Active TSS	Brain Angular Gyrus	brain
43	chr2:50763200-50764000	Active TSS	Brain Hippocampus Middle	brain
44	chr2:50763200-50764000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:50763400-50763600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:50763400-50763800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:50763400-50763800	Active TSS	Brain Anterior Caudate	brain
48	chr2:50763400-50763800	Active TSS	Brain Cingulate Gyrus	brain
49	chr2:50763600-50764000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:50763600-50764000	Enhancers	Fetal Kidney	kidney

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