Variant report

Variant	nsv523688
Chromosome Location	chr2:34245505-34347980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:34321987-34322130	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:34318851-34319200	GM12878	blood:	n/a	n/a
3	BRCA1	chr2:34321723-34321955	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:34331757-34332067	IMR90	lung:	n/a	chr2:34331898-34331909
5	CEBPB	chr2:34341235-34341427	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:34331718-34332056	HepG2	liver:	n/a	chr2:34331898-34331909
7	CEBPB	chr2:34327416-34327754	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:34292173-34292361	HepG2	liver:	n/a	chr2:34292232-34292243
9	CEBPB	chr2:34329961-34330780	IMR90	lung:	n/a	n/a
10	CEBPB	chr2:34282612-34282876	A549	lung:	n/a	n/a
11	CEBPB	chr2:34331823-34332032	H1-hESC	embryonic stem cell:	n/a	chr2:34331898-34331909
12	CEBPB	chr2:34282589-34282874	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:34331805-34332056	A549	lung:	n/a	chr2:34331898-34331909
14	CEBPB	chr2:34330050-34330691	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:34327493-34327598	A549	lung:	n/a	n/a
16	CEBPB	chr2:34315236-34315504	HepG2	liver:	n/a	chr2:34315355-34315366
17	CHD2	chr2:34318894-34319185	GM12878	blood:	n/a	n/a
18	CTCF	chr2:34321740-34321890	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr2:34321760-34321910	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr2:34321760-34321910	HEK293	kidney:	n/a	n/a
21	CTCF	chr2:34321760-34321910	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:34321733-34321910	GM20000	blood:	n/a	n/a
23	CTCF	chr2:34321650-34321928	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr2:34321558-34321610	GM19239	blood:	n/a	n/a
25	CTCF	chr2:34321780-34321930	HPF	lung:	n/a	n/a
26	CTCF	chr2:34321740-34321890	AG10803	skin:	n/a	n/a
27	CTCF	chr2:34321780-34321930	AG09319	gingival:	n/a	n/a
28	CTCF	chr2:34321680-34321830	HCM	heart:	n/a	n/a
29	CTCF	chr2:34321700-34321850	GM12864	blood:	n/a	n/a
30	CTCF	chr2:34321707-34321932	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:34321611-34322052	HCT-116	colon:	n/a	n/a
32	CTCF	chr2:34321623-34322057	HepG2	liver:	n/a	n/a
33	CTCF	chr2:34321713-34321964	HepG2	liver:	n/a	n/a
34	CTCF	chr2:34321720-34321870	GM12870	blood:	n/a	n/a
35	CTCF	chr2:34321440-34321590	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr2:34321780-34321930	GM12872	blood:	n/a	n/a
37	CTCF	chr2:34321600-34321750	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr2:34321780-34321930	HRE	kidney:	n/a	n/a
39	CTCF	chr2:34321768-34321842	GM19240	blood:	n/a	n/a
40	CTCF	chr2:34321780-34321930	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr2:34321740-34321890	RPTEC	kidney:	n/a	n/a
42	CTCF	chr2:34321760-34321910	K562	blood:	n/a	n/a
43	CTCF	chr2:34321527-34321596	GM10266	blood:	n/a	n/a
44	CTCF	chr2:34321760-34321910	AG09309	skin:	n/a	n/a
45	CTCF	chr2:34321760-34321910	HMEC	breast:	n/a	n/a
46	CTCF	chr2:34321725-34321979	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr2:34321719-34321948	LNCaP	prostate:	n/a	n/a
48	CTCF	chr2:34320752-34320825	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr2:34321760-34321910	GM12866	blood:	n/a	n/a
50	CTCF	chr2:34321800-34321950	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
2	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
3	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
4	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
5	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
6	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
7	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
8	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
9	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
10	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
11	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
12	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 1675 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1675 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11892281	chr2:34245505-34245506	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191661502	chr2:34245528-34245529	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547234212	chr2:34245543-34245544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141108350	chr2:34245567-34245568	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138425986	chr2:34245579-34245580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184474506	chr2:34245623-34245624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559715999	chr2:34245649-34245650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573640970	chr2:34245653-34245654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115592220	chr2:34245670-34245671	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562374253	chr2:34245764-34245765	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143902956	chr2:34245769-34245770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373728709	chr2:34245805-34245806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190176187	chr2:34245830-34245831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553301991	chr2:34245835-34245836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533416889	chr2:34245882-34245883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182228201	chr2:34245891-34245892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185763913	chr2:34245894-34245895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190240444	chr2:34245908-34245909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs180934919	chr2:34245911-34245912	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185307198	chr2:34245941-34245942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190415228	chr2:34245980-34245981	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150677221	chr2:34245997-34245998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539681267	chr2:34246004-34246005	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550940324	chr2:34246011-34246012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139890218	chr2:34246036-34246037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553387053	chr2:34246037-34246038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573282486	chr2:34246040-34246041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181211513	chr2:34246111-34246112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556058162	chr2:34246201-34246202	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576243004	chr2:34246208-34246209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544877487	chr2:34246212-34246213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149391272	chr2:34246213-34246214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533303984	chr2:34246250-34246251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540714484	chr2:34246333-34246334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560499805	chr2:34246369-34246370	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529327451	chr2:34246402-34246403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549358428	chr2:34246455-34246456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569454259	chr2:34246456-34246457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532030960	chr2:34246479-34246480	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551730098	chr2:34246480-34246481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs571799075	chr2:34246484-34246485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569191114	chr2:34246486-34246487	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186214572	chr2:34246590-34246591	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539899995	chr2:34246591-34246592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370535369	chr2:34246613-34246614	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532020623	chr2:34246615-34246616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374714203	chr2:34246618-34246619	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112561189	chr2:34246655-34246656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191967972	chr2:34246673-34246674	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183300186	chr2:34246682-34246683	Weak transcription	Chromatin interactive region	2 gene(s)	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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34243000-34248800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:34248800-34249200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:34249400-34250200	Weak transcription	Left Ventricle	heart
4	chr2:34249600-34250600	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:34249800-34250600	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr2:34249800-34250600	Enhancers	Fetal Stomach	stomach
7	chr2:34250200-34250600	Enhancers	Colon Smooth Muscle	Colon
8	chr2:34250400-34251000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:34250400-34251000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:34250600-34255400	Weak transcription	Fetal Stomach	stomach
11	chr2:34250600-34255800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:34250600-34256000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:34250600-34256200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:34255200-34256400	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:34255400-34255800	Enhancers	Fetal Stomach	stomach
16	chr2:34255600-34257000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:34255600-34257000	Enhancers	Fetal Heart	heart
18	chr2:34255800-34256000	Weak transcription	Fetal Stomach	stomach
19	chr2:34255800-34257000	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:34256000-34256400	Enhancers	Fetal Stomach	stomach
21	chr2:34256000-34256800	Enhancers	Colon Smooth Muscle	Colon
22	chr2:34256200-34256800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:34262000-34262800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:34262200-34263200	Enhancers	Fetal Lung	lung
25	chr2:34270400-34270600	Enhancers	Brain Substantia Nigra	brain
26	chr2:34275000-34276000	Enhancers	Fetal Heart	heart
27	chr2:34284600-34285200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:34293000-34293200	Enhancers	Brain Hippocampus Middle	brain
29	chr2:34293000-34293600	Enhancers	Brain Substantia Nigra	brain
30	chr2:34293400-34294800	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:34293600-34295000	Weak transcription	Brain Substantia Nigra	brain
32	chr2:34294200-34294600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:34294200-34295200	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:34294200-34295800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:34294400-34294800	Enhancers	Brain Anterior Caudate	brain
36	chr2:34294600-34296200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:34294800-34295000	Enhancers	Brain Hippocampus Middle	brain
38	chr2:34295000-34295400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:34295000-34295400	Enhancers	Brain Substantia Nigra	brain
40	chr2:34295200-34295400	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr2:34295400-34296200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:34295400-34296400	Active TSS	Brain Cingulate Gyrus	brain
43	chr2:34295400-34296400	Enhancers	Brain Hippocampus Middle	brain
44	chr2:34296200-34296600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:34296200-34296600	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr2:34305800-34306400	Enhancers	Fetal Intestine Large	intestine
47	chr2:34320600-34320800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:34320800-34321800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:34320800-34322400	Enhancers	Brain Hippocampus Middle	brain
50	chr2:34321400-34322200	Enhancers	Brain Angular Gyrus	brain

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