Variant report

Variant	esv991709
Chromosome Location	chr2:20376888-20383371
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:27)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20339841..20342282-chr2:20379713..20382419,2	MCF-7	breast:
2	chr2:20312519..20315301-chr2:20382441..20384884,2	MCF-7	breast:
3	chr2:20377278..20381105-chr2:20382551..20387503,5	K562	blood:
4	chr2:20379257..20380231-chr2:20422988..20423539,2	MCF-7	breast:
5	chr2:20323258..20325480-chr2:20380039..20381857,2	MCF-7	breast:
6	chr2:20368602..20370551-chr2:20379312..20381264,2	MCF-7	breast:
7	chr2:20337465..20342202-chr2:20382545..20388364,6	MCF-7	breast:
8	chr2:20338664..20345614-chr2:20377409..20381353,9	MCF-7	breast:
9	chr2:20375045..20377368-chr2:20378301..20380397,2	K562	blood:
10	chr2:20301825..20304525-chr2:20380174..20381913,2	MCF-7	breast:
11	chr2:20342469..20346864-chr2:20382569..20386022,5	MCF-7	breast:
12	chr2:20307232..20308797-chr2:20378092..20380183,2	MCF-7	breast:
13	chr2:20374283..20377217-chr2:20380767..20383134,3	MCF-7	breast:
14	chr2:20380124..20381774-chr2:20398168..20400030,2	MCF-7	breast:
15	chr2:20378488..20380865-chr2:38320846..38323560,2	MCF-7	breast:
16	chr2:20380951..20386083-chr2:20391129..20397009,8	MCF-7	breast:
17	chr2:20377278..20381105-chr2:20382551..20387503,5	K562	blood:
18	chr2:20339624..20342165-chr2:20377427..20379627,2	MCF-7	breast:
19	chr2:20379159..20380103-chr2:20424857..20425621,3	MCF-7	breast:
20	chr2:20378964..20381641-chr2:20471495..20474271,2	MCF-7	breast:
21	chr2:20348330..20350992-chr2:20378144..20381464,4	MCF-7	breast:
22	chr2:20369269..20371931-chr2:20376136..20379582,4	MCF-7	breast:
23	chr2:20251074..20253926-chr2:20378631..20381986,3	MCF-7	breast:
24	chr2:20366533..20369508-chr2:20380029..20382114,2	MCF-7	breast:
25	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:
26	chr2:20364027..20368295-chr2:20377113..20381748,5	MCF-7	breast:
27	chr2:20364604..20368497-chr2:20376297..20379611,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDC1-1	chr2:20378877-20378886	NONHSAT069430
2	lnc-RHOB-11	chr2:20382137-20382704	NONHSAT069431
3	lnc-SDC1-1	chr2:20380060-20380264	NONHSAT069430

No data

Variant related genes	Relation type
ENSG00000266059	chromatin interactions
ENSG00000200763	chromatin interactions
ENSG00000068697	chromatin interactions
ENSG00000115884	chromatin interactions
ENSG00000223734	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:249 , 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	rs534568750	chr2:20376944-20376945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182382462	chr2:20376966-20376967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6531217	chr2:20377070-20377071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537261908	chr2:20377207-20377208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556914896	chr2:20377229-20377230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573774386	chr2:20377251-20377252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542581648	chr2:20377252-20377253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146787290	chr2:20377312-20377313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572122436	chr2:20377335-20377336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537417142	chr2:20377338-20377339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564242168	chr2:20377348-20377349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148517837	chr2:20377387-20377388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6419087	chr2:20377392-20377393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs563759677	chr2:20377396-20377397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529475284	chr2:20377454-20377455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565796489	chr2:20377518-20377519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6531218	chr2:20377545-20377546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566350508	chr2:20377548-20377549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536892588	chr2:20377560-20377561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560053918	chr2:20377572-20377573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534606602	chr2:20377593-20377594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111239432	chr2:20377629-20377630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201840836	chr2:20377641-20377642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142861739	chr2:20377648-20377649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151070046	chr2:20377649-20377650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573340502	chr2:20377662-20377663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376335092	chr2:20377667-20377668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556994288	chr2:20377771-20377772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368343756	chr2:20377825-20377826	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370436932	chr2:20377837-20377838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs13025927	chr2:20377853-20377854	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs114449104	chr2:20377876-20377877	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs552869818	chr2:20377884-20377885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs572754752	chr2:20377944-20377945	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs541036435	chr2:20377990-20377991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs557777898	chr2:20378018-20378019	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs4462755	chr2:20378023-20378024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186695836	chr2:20378029-20378030	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs150340612	chr2:20378031-20378032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs189591472	chr2:20378059-20378060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs543162559	chr2:20378101-20378102	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs560101442	chr2:20378142-20378143	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs528837095	chr2:20378194-20378195	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs7559900	chr2:20378205-20378206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147617167	chr2:20378221-20378222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530508529	chr2:20378259-20378260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550416655	chr2:20378273-20378274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567325842	chr2:20378473-20378474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369946701	chr2:20378486-20378487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536059478	chr2:20378509-20378510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20367800-20383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:20369600-20377800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:20370200-20379800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:20371600-20380800	Weak transcription	Lung	lung
5	chr2:20372600-20377400	Weak transcription	Placenta	Placenta
6	chr2:20373000-20384200	Weak transcription	Fetal Lung	lung
7	chr2:20373600-20377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:20373800-20378400	Weak transcription	HMEC	breast
9	chr2:20374000-20378200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:20374000-20378600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:20374200-20377600	Weak transcription	Liver	Liver
12	chr2:20376200-20386200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:20376600-20377200	Enhancers	K562	blood
14	chr2:20376600-20381000	Enhancers	NHEK	skin
15	chr2:20376800-20377200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:20376800-20377200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20376800-20377200	Weak transcription	Esophagus	oesophagus
18	chr2:20376800-20377200	Weak transcription	Stomach Mucosa	stomach
19	chr2:20377000-20379200	Enhancers	HepG2	liver
20	chr2:20377200-20377800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:20377200-20378800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:20377200-20381000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:20377200-20381600	Weak transcription	K562	blood
24	chr2:20377200-20386200	Enhancers	Esophagus	oesophagus
25	chr2:20377200-20388200	Enhancers	Stomach Mucosa	stomach
26	chr2:20377400-20379600	Enhancers	Fetal Intestine Large	intestine
27	chr2:20377400-20381800	Enhancers	Gastric	stomach
28	chr2:20377400-20382200	Enhancers	Colonic Mucosa	Colon
29	chr2:20377400-20384800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:20377400-20390000	Enhancers	Placenta	Placenta
31	chr2:20377600-20380400	Enhancers	Fetal Intestine Small	intestine
32	chr2:20377600-20386000	Enhancers	Liver	Liver
33	chr2:20377800-20378200	Bivalent Enhancer	Fetal Kidney	kidney
34	chr2:20377800-20378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:20377800-20379600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:20377800-20380200	Enhancers	Pancreas	Pancrea
37	chr2:20378000-20378600	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:20378000-20378800	Enhancers	A549	lung
39	chr2:20378000-20379200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:20378000-20380000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:20378000-20380400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:20378200-20378400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:20378400-20378800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:20378400-20386600	Enhancers	HMEC	breast
45	chr2:20378600-20380200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:20378800-20379400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:20378800-20379400	Enhancers	Fetal Kidney	kidney
48	chr2:20378800-20380200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:20378800-20381000	Flanking Active TSS	A549	lung
50	chr2:20379200-20379400	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links