Variant report

Variant	esv3323329
Chromosome Location	chr2:20314271-20318569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20313389..20316167-chr2:20411646..20415090,3	MCF-7	breast:
2	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:
3	chr2:20313583..20314286-chr2:20421022..20421966,2	MCF-7	breast:
4	chr2:20312519..20315301-chr2:20382441..20384884,2	MCF-7	breast:
5	chr2:20313693..20315548-chr2:20343549..20346217,2	MCF-7	breast:
6	chr2:20312716..20316154-chr2:20394135..20396612,3	MCF-7	breast:
7	chr2:20318146..20319802-chr2:20331839..20334216,2	MCF-7	breast:
8	chr2:20312607..20315159-chr2:20320979..20324527,5	MCF-7	breast:
9	chr2:20271098..20271980-chr2:20313360..20314366,4	MCF-7	breast:
10	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:
11	chr2:20302713..20305705-chr2:20312784..20315987,4	MCF-7	breast:
12	chr2:20271313..20272085-chr2:20313545..20314285,3	MCF-7	breast:
13	chr2:20313769..20315604-chr2:20340680..20342893,2	MCF-7	breast:
14	chr2:20271098..20272306-chr2:20313307..20314343,4	MCF-7	breast:
15	chr2:20276643..20279020-chr2:20317223..20319754,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-14	chr2:20317537-20317656	NONHSAT069426
2	lnc-RHOB-14	chr2:20318273-20318410	NONHSAT069426

No data

Variant related genes	Relation type
ENSG00000115884	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537698355	chr2:20314288-20314289	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377486759	chr2:20314310-20314311	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11685788	chr2:20314313-20314314	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs573954071	chr2:20314377-20314378	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187839001	chr2:20314392-20314393	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs55653442	chr2:20314394-20314395	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565309721	chr2:20314405-20314406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372100755	chr2:20314417-20314418	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374084097	chr2:20314429-20314430	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530784396	chr2:20314450-20314451	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191359787	chr2:20314500-20314501	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372467737	chr2:20314530-20314531	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150915877	chr2:20314623-20314624	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182119810	chr2:20314644-20314645	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11900871	chr2:20314737-20314738	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566712750	chr2:20314754-20314755	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538978895	chr2:20314841-20314842	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558961599	chr2:20314877-20314878	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568854683	chr2:20314891-20314892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537406265	chr2:20314904-20314905	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554654802	chr2:20314905-20314906	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574634407	chr2:20314926-20314927	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540323619	chr2:20314947-20314948	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550120414	chr2:20314969-20314970	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79586236	chr2:20315001-20315002	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371225022	chr2:20315065-20315066	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139245511	chr2:20315142-20315143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187880124	chr2:20315154-20315155	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562607767	chr2:20315155-20315156	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115077944	chr2:20315161-20315162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370317989	chr2:20315167-20315168	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544233629	chr2:20315228-20315229	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77680390	chr2:20315251-20315252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369967317	chr2:20315261-20315262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192491965	chr2:20315281-20315282	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149991571	chr2:20315314-20315315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374017976	chr2:20315320-20315321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147673819	chr2:20315354-20315355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532537228	chr2:20315434-20315435	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114026902	chr2:20315491-20315492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569405927	chr2:20315495-20315496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77887201	chr2:20315502-20315503	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371140716	chr2:20315504-20315505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144731908	chr2:20315580-20315581	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568049832	chr2:20315614-20315615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376471306	chr2:20315666-20315667	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59086150	chr2:20315677-20315678	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553875058	chr2:20315681-20315682	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78635182	chr2:20315754-20315755	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529814849	chr2:20315774-20315775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20306600-20318400	Enhancers	Placenta	Placenta
2	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
3	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20309000-20315400	Weak transcription	Hela-S3	cervix
5	chr2:20311600-20314400	Weak transcription	Colonic Mucosa	Colon
6	chr2:20311800-20315600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:20312400-20316600	Enhancers	Esophagus	oesophagus
8	chr2:20312800-20316800	Enhancers	Fetal Intestine Large	intestine
9	chr2:20313000-20315000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:20313000-20316200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:20313000-20316600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:20313000-20316800	Enhancers	Fetal Intestine Small	intestine
13	chr2:20313000-20317000	Enhancers	Stomach Mucosa	stomach
14	chr2:20313200-20314400	Enhancers	Adipose Nuclei	Adipose
15	chr2:20313200-20314600	Enhancers	Left Ventricle	heart
16	chr2:20313200-20315800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:20313200-20316200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:20313200-20316400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:20313200-20316800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:20313400-20314400	Enhancers	HMEC	breast
21	chr2:20313400-20316200	Enhancers	NHEK	skin
22	chr2:20313400-20316600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr2:20313600-20314600	Enhancers	HUVEC	blood vessel
24	chr2:20313800-20314400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:20314000-20315000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr2:20314000-20315000	Flanking Active TSS	HepG2	liver
27	chr2:20314000-20316600	Enhancers	Gastric	stomach
28	chr2:20314200-20314400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:20314200-20314800	Enhancers	Small Intestine	intestine
30	chr2:20314200-20318000	Weak transcription	Spleen	Spleen
31	chr2:20314200-20322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:20314400-20316400	Enhancers	Colonic Mucosa	Colon
33	chr2:20314800-20317000	Weak transcription	Small Intestine	intestine
34	chr2:20315000-20316800	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:20315000-20317200	Enhancers	HepG2	liver
36	chr2:20315400-20316400	Enhancers	Hela-S3	cervix
37	chr2:20315600-20316000	Enhancers	K562	blood
38	chr2:20315600-20316200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:20316000-20316200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:20316000-20316200	Flanking Active TSS	K562	blood
41	chr2:20316000-20316600	Enhancers	Fetal Heart	heart
42	chr2:20316400-20322000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:20316600-20317200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:20316600-20318600	Weak transcription	Esophagus	oesophagus
45	chr2:20316800-20320200	Weak transcription	Fetal Intestine Large	intestine
46	chr2:20316800-20320400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:20316800-20320600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:20317000-20317200	Enhancers	Small Intestine	intestine
49	chr2:20317000-20320600	Weak transcription	Stomach Mucosa	stomach
50	chr2:20317200-20317400	Flanking Active TSS	HepG2	liver

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