Variant report

Variant	nsv874033
Chromosome Location	chr2:50798079-50829031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:50816209-50816475	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:50807093-50807192	A549	lung:	n/a	chr2:50807143-50807154
3	CEBPB	chr2:50802795-50803136	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:50802894-50803137	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:50806988-50807292	HepG2	liver:	n/a	chr2:50807143-50807154
6	CEBPB	chr2:50806995-50807315	IMR90	lung:	n/a	chr2:50807143-50807154
7	CEBPB	chr2:50802915-50803126	A549	lung:	n/a	n/a
8	CTCF	chr2:50802440-50802590	GM12869	blood:	n/a	n/a
9	CTCF	chr2:50802540-50802690	GM12873	blood:	n/a	n/a
10	CTCF	chr2:50802500-50802650	NHEK	skin:	n/a	n/a
11	CTCF	chr2:50802480-50802630	NHEK	skin:	n/a	n/a
12	CTCF	chr2:50802540-50802690	HCT-116	colon:	n/a	n/a
13	CTCF	chr2:50802500-50802650	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr2:50802480-50802630	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr2:50802518-50802653	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr2:50802396-50802715	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:50802440-50802590	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr2:50802520-50802670	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr2:50802520-50802670	HepG2	liver:	n/a	n/a
20	CTCF	chr2:50806860-50807010	HepG2	liver:	n/a	n/a
21	CTCF	chr2:50802540-50802690	AG04450	lung:	n/a	n/a
22	CTCF	chr2:50802460-50802610	SAEC	small airway:	n/a	n/a
23	CTCF	chr2:50802560-50802710	GM12871	blood:	n/a	n/a
24	CTCF	chr2:50802500-50802650	GM12869	blood:	n/a	n/a
25	CTCF	chr2:50802440-50802590	GM12873	blood:	n/a	n/a
26	CTCF	chr2:50802554-50802593	Gliobla	brain:	n/a	n/a
27	CTCF	chr2:50802520-50802670	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr2:50802460-50802610	HCT-116	colon:	n/a	n/a
29	CTCF	chr2:50802600-50802750	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr2:50802540-50802550	Gliobla	brain:	n/a	n/a
31	CTCF	chr2:50802480-50802630	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr2:50802596-50802597	Gliobla	brain:	n/a	n/a
33	CTCF	chr2:50802538-50802639	HepG2	liver:	n/a	n/a
34	CTCF	chr2:50802456-50802657	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr2:50802560-50802710	HCM	heart:	n/a	n/a
36	CTCF	chr2:50802520-50802670	GM12878	blood:	n/a	n/a
37	CTCF	chr2:50802500-50802650	A549	lung:	n/a	n/a
38	CTCF	chr2:50802500-50802650	SAEC	small airway:	n/a	n/a
39	CTCF	chr2:50802480-50802630	HEK293	kidney:	n/a	n/a
40	CTCF	chr2:50802460-50802610	Caco-2	colon:	n/a	n/a
41	CTCF	chr2:50802420-50802570	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr2:50802540-50802690	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr2:50802440-50802590	HRE	kidney:	n/a	n/a
44	CTCF	chr2:50802480-50802630	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr2:50814499-50814600	Fibrobl	skin:	n/a	n/a
46	CTCF	chr2:50813020-50813170	A549	lung:	n/a	n/a
47	CTCF	chr2:50802490-50802653	NHEK	skin:	n/a	n/a
48	CTCF	chr2:50802340-50802490	GM12875	blood:	n/a	n/a
49	FOS	chr2:50812781-50813025	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:50812798-50812987	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50799576..50800227-chr5:50253074..50253737,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230327	TF binding region

Extended variants
information (count: 1273 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531122921	chr2:50802020-50802021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543284877	chr2:50802046-50802047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185751171	chr2:50802065-50802066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532164223	chr2:50802080-50802081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58262679	chr2:50802103-50802104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188803759	chr2:50802109-50802110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149485750	chr2:50802154-50802155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549379461	chr2:50802171-50802172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111904114	chr2:50802217-50802218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567639112	chr2:50802229-50802230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538557156	chr2:50802273-50802274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556855191	chr2:50802303-50802304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571815527	chr2:50802307-50802308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538855203	chr2:50802327-50802328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553874324	chr2:50802353-50802354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186961350	chr2:50802603-50802604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577012494	chr2:50802628-50802629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540857987	chr2:50802789-50802790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560665589	chr2:50802830-50802831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191800063	chr2:50802832-50802833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201425584	chr2:50802841-50802842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148637197	chr2:50802861-50802862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561277061	chr2:50802875-50802876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34050358	chr2:50802878-50802879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531694690	chr2:50802885-50802886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183922595	chr2:50802893-50802894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187203904	chr2:50802924-50802925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539254564	chr2:50802952-50802953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553649730	chr2:50803029-50803030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547651145	chr2:50803088-50803089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538521433	chr2:50803104-50803105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556710210	chr2:50803147-50803148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566233947	chr2:50803172-50803173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375534983	chr2:50803219-50803220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535954733	chr2:50803282-50803283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554202662	chr2:50803303-50803304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142819943	chr2:50803356-50803357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536646420	chr2:50803479-50803480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72884054	chr2:50803486-50803487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147400513	chr2:50803551-50803552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189800852	chr2:50803584-50803585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182099084	chr2:50803613-50803614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186610128	chr2:50803673-50803674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191808255	chr2:50803676-50803677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543149616	chr2:50803684-50803685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566001319	chr2:50803716-50803717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552991838	chr2:50803739-50803740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572705112	chr2:50803760-50803761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183272024	chr2:50803764-50803765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372595917	chr2:50803774-50803775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50802000-50802400	Enhancers	Fetal Heart	heart
2	chr2:50802200-50802400	Enhancers	Fetal Brain Female	brain
3	chr2:50802600-50832400	Weak transcription	Fetal Brain Female	brain
4	chr2:50810800-50813600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:50812400-50827200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:50814200-50814400	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
7	chr2:50815000-50818600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:50815600-50818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:50817600-50817800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:50818000-50818600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:50818000-50820000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:50818200-50818400	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:50818200-50819000	Enhancers	Brain Substantia Nigra	brain
14	chr2:50818200-50820600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:50818400-50819400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:50818400-50819800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:50818600-50819000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:50818600-50819200	Genic enhancers	Brain Germinal Matrix	brain
19	chr2:50819000-50819800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:50819000-50819800	Enhancers	Brain Anterior Caudate	brain
21	chr2:50819200-50820000	Enhancers	Brain Germinal Matrix	brain
22	chr2:50819400-50819800	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:50820000-50833400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:50820600-50834200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:50821400-50822200	Enhancers	Stomach Mucosa	stomach
26	chr2:50828200-50829000	Enhancers	Pancreatic Islets	Pancreatic Islet

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