Variant report

Variant	nsv1012084
Chromosome Location	chr2:34227952-34317829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:34237938-34237989	K562	blood:	n/a	n/a
2	CEBPB	chr2:34282612-34282876	A549	lung:	n/a	n/a
3	CEBPB	chr2:34282589-34282874	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:34292173-34292361	HepG2	liver:	n/a	chr2:34292232-34292243
5	CEBPB	chr2:34242505-34242705	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:34237819-34238137	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:34237910-34238054	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:34237882-34238165	A549	lung:	n/a	n/a
9	CEBPB	chr2:34315236-34315504	HepG2	liver:	n/a	chr2:34315355-34315366
10	CEBPB	chr2:34237654-34238159	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr2:34237832-34238198	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr2:34237878-34238102	GM12878	blood:	n/a	n/a
13	CTCF	chr2:34237860-34238010	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr2:34277080-34277230	RPTEC	kidney:	n/a	n/a
15	CTCF	chr2:34237880-34238030	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr2:34237880-34238030	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr2:34237900-34238050	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr2:34237900-34238050	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr2:34237920-34238070	NHEK	skin:	n/a	n/a
20	CTCF	chr2:34237873-34238084	GM13976	blood:	n/a	n/a
21	CTCF	chr2:34237920-34238070	GM12872	blood:	n/a	n/a
22	CTCF	chr2:34237856-34238091	GM10266	blood:	n/a	n/a
23	CTCF	chr2:34237920-34238070	GM12866	blood:	n/a	n/a
24	CTCF	chr2:34237920-34238070	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr2:34237920-34238070	GM12873	blood:	n/a	n/a
26	CTCF	chr2:34237920-34238070	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr2:34237900-34238050	NB4	blood:	n/a	n/a
28	CTCF	chr2:34237900-34238050	GM06990	blood:	n/a	n/a
29	CTCF	chr2:34237880-34238030	HMF	breast:	n/a	n/a
30	CTCF	chr2:34237793-34238181	IMR90	lung:	n/a	n/a
31	CTCF	chr2:34237900-34238050	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr2:34237900-34238050	GM12872	blood:	n/a	n/a
33	CTCF	chr2:34237720-34237870	HAc	cerebellar:	n/a	n/a
34	CTCF	chr2:34237837-34238113	GM12878	blood:	n/a	n/a
35	CTCF	chr2:34237765-34238178	HepG2	liver:	n/a	n/a
36	CTCF	chr2:34237866-34238087	GM13977	blood:	n/a	n/a
37	CTCF	chr2:34237920-34238070	GM12869	blood:	n/a	n/a
38	CTCF	chr2:34237847-34238081	LNCaP	prostate:	n/a	n/a
39	CTCF	chr2:34237871-34238089	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr2:34237920-34238070	SAEC	small airway:	n/a	n/a
41	CTCF	chr2:34237900-34238050	GM12866	blood:	n/a	n/a
42	CTCF	chr2:34237900-34238050	NHLF	lung:	n/a	n/a
43	CTCF	chr2:34237880-34238030	HCT-116	colon:	n/a	n/a
44	CTCF	chr2:34237920-34238070	GM12870	blood:	n/a	n/a
45	CTCF	chr2:34237473-34238358	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr2:34237920-34238070	AG10803	skin:	n/a	n/a
47	CTCF	chr2:34237855-34238112	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:34237880-34238030	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr2:34258660-34258810	NHLF	lung:	n/a	n/a
50	CTCF	chr2:34237900-34238050	AG04450	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
2	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
3	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
4	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
5	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
6	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
7	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
8	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
9	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
10	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
2	lnc-RASGRP3-2	chr2:34293281-34293347	XLOC_001422
3	lnc-RASGRP3-2	chr2:34292293-34292370	XLOC_001422
4	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
5	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
6	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
7	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031

No data

Variant related genes	Relation type
ENSG00000237790	TF binding region
ENSG00000138161	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000259001	chromatin interactions

Extended variants
information (count: 1529 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1529 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181579382	chr2:34228204-34228205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185692595	chr2:34228213-34228214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532612470	chr2:34228255-34228256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2048404	chr2:34228256-34228257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559283639	chr2:34228277-34228278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528764244	chr2:34228299-34228300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548469987	chr2:34228303-34228304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147378960	chr2:34228312-34228313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537231659	chr2:34228329-34228330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550677938	chr2:34228337-34228338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566908535	chr2:34228394-34228395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570473738	chr2:34228433-34228434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539483965	chr2:34228446-34228447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553011735	chr2:34228472-34228473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139527848	chr2:34228495-34228496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546385696	chr2:34228517-34228518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143647053	chr2:34228523-34228524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555687295	chr2:34228545-34228546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575426354	chr2:34228550-34228551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2048405	chr2:34228630-34228631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372111574	chr2:34228686-34228687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557901641	chr2:34228699-34228700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552742468	chr2:34228727-34228728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79857334	chr2:34228747-34228748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545846666	chr2:34228785-34228786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574328345	chr2:34228817-34228818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150558675	chr2:34228847-34228848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80052864	chr2:34228848-34228849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562021006	chr2:34228855-34228856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541701990	chr2:34228861-34228862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534188436	chr2:34228862-34228863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13032001	chr2:34228891-34228892	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139648403	chr2:34228909-34228910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149745268	chr2:34228914-34228915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145216831	chr2:34228927-34228928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7596401	chr2:34228947-34228948	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548234579	chr2:34228950-34228951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566510555	chr2:34228961-34228962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190834395	chr2:34228967-34228968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555375765	chr2:34229029-34229030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569074950	chr2:34229094-34229095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75358660	chr2:34229098-34229099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13382895	chr2:34229140-34229141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377408123	chr2:34229171-34229172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78868336	chr2:34229172-34229173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577765189	chr2:34229176-34229177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71412871	chr2:34229197-34229198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12987862	chr2:34229199-34229200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182067756	chr2:34229222-34229223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572928727	chr2:34229237-34229238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34228200-34228600	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:34228600-34229000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:34228800-34229000	Enhancers	Brain Germinal Matrix	brain
4	chr2:34228800-34229000	Enhancers	Brain Hippocampus Middle	brain
5	chr2:34228800-34229000	Enhancers	Brain Substantia Nigra	brain
6	chr2:34228800-34229200	Enhancers	Brain Anterior Caudate	brain
7	chr2:34229000-34229200	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:34229000-34229600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:34229000-34230200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:34229000-34231400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:34229200-34229800	Weak transcription	Brain Anterior Caudate	brain
12	chr2:34229200-34230000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:34229600-34231400	Enhancers	Brain Substantia Nigra	brain
14	chr2:34229800-34230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:34229800-34230000	Active TSS	Brain Hippocampus Middle	brain
16	chr2:34229800-34230400	Active TSS	Brain Angular Gyrus	brain
17	chr2:34229800-34230400	Active TSS	Brain Anterior Caudate	brain
18	chr2:34229800-34230400	Active TSS	Brain Germinal Matrix	brain
19	chr2:34229800-34231400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:34230000-34230200	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:34230000-34230400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:34230000-34230400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:34230000-34230400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr2:34230000-34230400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:34230200-34230400	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr2:34230200-34230600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr2:34230400-34230600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:34230400-34231000	Enhancers	Brain Anterior Caudate	brain
29	chr2:34230400-34231200	Enhancers	Brain Angular Gyrus	brain
30	chr2:34230400-34231200	Enhancers	Brain Germinal Matrix	brain
31	chr2:34230400-34231400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:34230400-34231400	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:34230400-34231600	Enhancers	Brain Hippocampus Middle	brain
34	chr2:34230600-34231200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:34236800-34237800	Enhancers	Fetal Lung	lung
36	chr2:34237400-34237800	Enhancers	Brain Hippocampus Middle	brain
37	chr2:34237400-34237800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:34237400-34238200	Enhancers	Fetal Stomach	stomach
39	chr2:34237600-34238200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:34237600-34238200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:34237600-34238200	Enhancers	Brain Anterior Caudate	brain
42	chr2:34237600-34238200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:34237600-34238200	Enhancers	Fetal Kidney	kidney
44	chr2:34237600-34238200	Enhancers	Rectal Smooth Muscle	rectum
45	chr2:34237800-34238200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:34237800-34238200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:34237800-34238200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:34238200-34240600	Weak transcription	Fetal Kidney	kidney
49	chr2:34240600-34240800	ZNF genes & repeats	Fetal Kidney	kidney
50	chr2:34243000-34248800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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