Variant report

Variant	nsv817895
Chromosome Location	chr2:50789614-50832835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 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	chr2:50802894-50803137	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:50806988-50807292	HepG2	liver:	n/a	chr2:50807143-50807154
4	CEBPB	chr2:50802795-50803136	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:50806995-50807315	IMR90	lung:	n/a	chr2:50807143-50807154
6	CEBPB	chr2:50807093-50807192	A549	lung:	n/a	chr2:50807143-50807154
7	CEBPB	chr2:50802915-50803126	A549	lung:	n/a	n/a
8	CTCF	chr2:50802480-50802630	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr2:50802480-50802630	NHEK	skin:	n/a	n/a
10	CTCF	chr2:50802540-50802690	AG04450	lung:	n/a	n/a
11	CTCF	chr2:50802520-50802670	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr2:50802538-50802639	HepG2	liver:	n/a	n/a
13	CTCF	chr2:50802520-50802670	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:50802540-50802550	Gliobla	brain:	n/a	n/a
15	CTCF	chr2:50802340-50802490	GM12875	blood:	n/a	n/a
16	CTCF	chr2:50802396-50802715	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:50802456-50802657	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:50802440-50802590	GM12873	blood:	n/a	n/a
19	CTCF	chr2:50802554-50802593	Gliobla	brain:	n/a	n/a
20	CTCF	chr2:50802480-50802630	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr2:50802440-50802590	HRE	kidney:	n/a	n/a
22	CTCF	chr2:50802540-50802690	GM12873	blood:	n/a	n/a
23	CTCF	chr2:50802480-50802630	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr2:50802460-50802610	Caco-2	colon:	n/a	n/a
25	CTCF	chr2:50802500-50802650	NHEK	skin:	n/a	n/a
26	CTCF	chr2:50802560-50802710	HCM	heart:	n/a	n/a
27	CTCF	chr2:50802596-50802597	Gliobla	brain:	n/a	n/a
28	CTCF	chr2:50802420-50802570	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr2:50802440-50802590	GM12869	blood:	n/a	n/a
30	CTCF	chr2:50802440-50802590	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr2:50802540-50802690	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr2:50802520-50802670	GM12878	blood:	n/a	n/a
33	CTCF	chr2:50802520-50802670	HepG2	liver:	n/a	n/a
34	CTCF	chr2:50802540-50802690	HCT-116	colon:	n/a	n/a
35	CTCF	chr2:50802600-50802750	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr2:50802460-50802610	HCT-116	colon:	n/a	n/a
37	CTCF	chr2:50802500-50802650	A549	lung:	n/a	n/a
38	CTCF	chr2:50802500-50802650	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr2:50802518-50802653	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr2:50806860-50807010	HepG2	liver:	n/a	n/a
41	CTCF	chr2:50802560-50802710	GM12871	blood:	n/a	n/a
42	CTCF	chr2:50802500-50802650	SAEC	small airway:	n/a	n/a
43	CTCF	chr2:50802500-50802650	GM12869	blood:	n/a	n/a
44	CTCF	chr2:50813020-50813170	A549	lung:	n/a	n/a
45	CTCF	chr2:50802490-50802653	NHEK	skin:	n/a	n/a
46	CTCF	chr2:50802480-50802630	HEK293	kidney:	n/a	n/a
47	CTCF	chr2:50814499-50814600	Fibrobl	skin:	n/a	n/a
48	CTCF	chr2:50802460-50802610	SAEC	small airway:	n/a	n/a
49	FOS	chr2:50791903-50792081	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:50821424-50821769	MCF10A-Er-Src	breast:	n/a	chr2:50821595-50821602 chr2:50821593-50821602 chr2:50821592-50821604

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:50799576..50800227-chr5:50253074..50253737,2	MCF-7	breast:
2	chr2:50814373..50817124-chr2:50829622..50831513,2	MCF-7	breast:
3	chr2:50783410..50785282-chr2:50787313..50790296,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230327	TF binding region
ENSG00000230327	chromatin interactions

Extended variants
information (count: 1735 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1735 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12995085	chr2:50789614-50789615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572956987	chr2:50789641-50789642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540243143	chr2:50789744-50789745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17040835	chr2:50789786-50789787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369446830	chr2:50789930-50789931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555309470	chr2:50789936-50789937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190240976	chr2:50789940-50789941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544610755	chr2:50789949-50789950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181532037	chr2:50789967-50789968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533404424	chr2:50789971-50789972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368314105	chr2:50789984-50789985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530363093	chr2:50789996-50789997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10192721	chr2:50790004-50790005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376626668	chr2:50790009-50790010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10205164	chr2:50790026-50790027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186327084	chr2:50790045-50790046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531321338	chr2:50790077-50790078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549848296	chr2:50790078-50790079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571517070	chr2:50790090-50790091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538451435	chr2:50790094-50790095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553511790	chr2:50790099-50790100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191024023	chr2:50790148-50790149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116227146	chr2:50790151-50790152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555812533	chr2:50790152-50790153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573988390	chr2:50790202-50790203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10207707	chr2:50790212-50790213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556580206	chr2:50790242-50790243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143581739	chr2:50790243-50790244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551188178	chr2:50790260-50790261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183160336	chr2:50790359-50790360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377598165	chr2:50790387-50790388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185253136	chr2:50790408-50790409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113421857	chr2:50790422-50790423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374751947	chr2:50790457-50790458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560640093	chr2:50790495-50790496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527865034	chr2:50790501-50790502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542778175	chr2:50790520-50790521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190749626	chr2:50790568-50790569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114372487	chr2:50790625-50790626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549705466	chr2:50790656-50790657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140034654	chr2:50790668-50790669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10195751	chr2:50790714-50790715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554180297	chr2:50790724-50790725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547214451	chr2:50790783-50790784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565570146	chr2:50790786-50790787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144102597	chr2:50790804-50790805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549255298	chr2:50790846-50790847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150702692	chr2:50790874-50790875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537859280	chr2:50790880-50790881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115907060	chr2:50790897-50790898	Enhancers Weak transcription	n/a	n/a	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
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50766200-50791800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:50780000-50791400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:50790400-50791200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:50790400-50791200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:50790600-50791200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:50790800-50791000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:50791000-50795600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:50791600-50793000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:50791800-50793000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:50792000-50793200	Enhancers	Fetal Brain Male	brain
11	chr2:50792200-50793000	Enhancers	Fetal Brain Female	brain
12	chr2:50802000-50802400	Enhancers	Fetal Heart	heart
13	chr2:50802200-50802400	Enhancers	Fetal Brain Female	brain
14	chr2:50802600-50832400	Weak transcription	Fetal Brain Female	brain
15	chr2:50810800-50813600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:50812400-50827200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:50814200-50814400	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
18	chr2:50815000-50818600	Weak transcription	Brain Germinal Matrix	brain
19	chr2:50815600-50818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:50817600-50817800	Enhancers	Brain Hippocampus Middle	brain
21	chr2:50818000-50818600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:50818000-50820000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:50818200-50818400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:50818200-50819000	Enhancers	Brain Substantia Nigra	brain
25	chr2:50818200-50820600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:50818400-50819400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:50818400-50819800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:50818600-50819000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:50818600-50819200	Genic enhancers	Brain Germinal Matrix	brain
30	chr2:50819000-50819800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:50819000-50819800	Enhancers	Brain Anterior Caudate	brain
32	chr2:50819200-50820000	Enhancers	Brain Germinal Matrix	brain
33	chr2:50819400-50819800	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:50820000-50833400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:50820600-50834200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:50821400-50822200	Enhancers	Stomach Mucosa	stomach
37	chr2:50828200-50829000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:50830400-50830600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:50831400-50832600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:50832400-50832800	Enhancers	Fetal Brain Female	brain
41	chr2:50832600-50833800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:50832800-50838400	Weak transcription	Fetal Brain Female	brain

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