Variant report

Variant	esv275432
Chromosome Location	chr2:31023062-31027510
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:31024088..31026877-chr2:31028712..31030358,2	MCF-7	breast:
2	chr2:31022464..31025288-chr2:31025313..31027644,3	MCF-7	breast:
3	chr2:31026243..31028082-chr2:31031937..31034757,2	MCF-7	breast:
4	chr2:31010717..31012954-chr2:31021927..31023984,2	MCF-7	breast:
5	chr2:31020133..31021704-chr2:31026815..31029517,2	K562	blood:
6	chr16:88870661..88873089-chr2:31024319..31026555,2	MCF-7	breast:
7	chr2:31022464..31025288-chr2:31025313..31027644,3	MCF-7	breast:
8	chr2:31022224..31024733-chr2:31025307..31026909,2	K562	blood:
9	chr2:31022224..31024733-chr2:31025307..31026909,2	K562	blood:
10	chr2:31018858..31020682-chr2:31021635..31023770,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162949	chromatin interactions
ENSG00000167513	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs17010325	chr2:31023062-31023063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530587891	chr2:31023063-31023064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550774372	chr2:31023067-31023068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376251724	chr2:31023087-31023088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570837344	chr2:31023108-31023109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187248951	chr2:31023139-31023140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116026201	chr2:31023196-31023197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566573277	chr2:31023209-31023210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78118702	chr2:31023211-31023212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555598692	chr2:31023216-31023217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547229273	chr2:31023218-31023219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79912281	chr2:31023238-31023239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145906792	chr2:31023283-31023284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370012221	chr2:31023284-31023285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116565571	chr2:31023320-31023321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372506726	chr2:31023351-31023352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576846478	chr2:31023371-31023372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545920916	chr2:31023410-31023411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529418932	chr2:31023420-31023421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559497296	chr2:31023433-31023434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528053259	chr2:31023450-31023451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202157376	chr2:31023459-31023460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541864314	chr2:31023464-31023465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145421911	chr2:31023485-31023486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550777560	chr2:31023492-31023493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530864360	chr2:31023509-31023510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17010328	chr2:31023517-31023518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570667284	chr2:31023529-31023530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116049980	chr2:31023539-31023540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190430130	chr2:31023582-31023583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566634353	chr2:31023593-31023594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17010329	chr2:31023602-31023603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35056100	chr2:31023643-31023644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377409818	chr2:31023677-31023678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569425804	chr2:31023679-31023680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75223989	chr2:31023680-31023681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537126033	chr2:31023727-31023728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115969955	chr2:31023730-31023731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578156121	chr2:31023740-31023741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540842666	chr2:31023758-31023759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143049480	chr2:31023810-31023811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572998440	chr2:31023840-31023841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541825676	chr2:31023872-31023873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78946853	chr2:31023882-31023883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530706590	chr2:31023891-31023892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180686585	chr2:31023966-31023967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6740888	chr2:31024037-31024038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534326574	chr2:31024124-31024125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372913639	chr2:31024143-31024144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74804169	chr2:31024144-31024145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31020600-31029200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:31020800-31024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:31020800-31026200	Weak transcription	Right Ventricle	heart
4	chr2:31020800-31030600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:31021400-31025800	Weak transcription	Esophagus	oesophagus
6	chr2:31021600-31025800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:31021800-31026200	Weak transcription	Left Ventricle	heart
8	chr2:31021800-31029200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:31022000-31026200	Weak transcription	Brain Angular Gyrus	brain
10	chr2:31022200-31024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:31022200-31025800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:31022200-31026000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:31022200-31029200	Weak transcription	Fetal Stomach	stomach
14	chr2:31022400-31025600	Weak transcription	Lung	lung
15	chr2:31022400-31026000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:31022400-31026000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:31022400-31026200	Weak transcription	Pancreas	Pancrea
18	chr2:31022400-31029600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:31022400-31029800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:31022600-31025600	Weak transcription	Gastric	stomach
21	chr2:31022600-31026000	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:31022600-31029000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:31022600-31030400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:31022800-31023200	Weak transcription	Stomach Mucosa	stomach
25	chr2:31023200-31023400	Enhancers	Stomach Mucosa	stomach
26	chr2:31023400-31026600	Weak transcription	Stomach Mucosa	stomach
27	chr2:31024600-31025000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:31025000-31025200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:31025200-31029600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:31025200-31032200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:31025600-31026400	Enhancers	Lung	lung
32	chr2:31025600-31028800	Enhancers	Gastric	stomach
33	chr2:31025800-31026200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:31025800-31026400	Enhancers	Brain Substantia Nigra	brain
35	chr2:31025800-31026800	Enhancers	Esophagus	oesophagus
36	chr2:31026000-31027200	Enhancers	Brain Anterior Caudate	brain
37	chr2:31026000-31027200	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:31026000-31027600	Enhancers	Brain Hippocampus Middle	brain
39	chr2:31026000-31028200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:31026200-31026400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:31026200-31026400	Enhancers	Right Ventricle	heart
42	chr2:31026200-31026600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr2:31026200-31026600	Enhancers	Left Ventricle	heart
44	chr2:31026200-31026600	Enhancers	Pancreas	Pancrea
45	chr2:31026200-31027400	Enhancers	Adipose Nuclei	Adipose
46	chr2:31026200-31028000	Enhancers	Brain Angular Gyrus	brain
47	chr2:31026400-31026600	Enhancers	Right Atrium	heart
48	chr2:31026400-31026800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr2:31026400-31027000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:31026400-31027000	Enhancers	Liver	Liver

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