Variant report

Variant	esv1844655
Chromosome Location	chr2:53929855-53972693
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:11966902..11969473-chr2:53944359..53947359,6	MCF-7	breast:
2	chr2:53949409..53951180-chr2:53951221..53954133,2	K562	blood:
3	chr1:11966927..11968808-chr2:53945839..53947359,4	MCF-7	breast:
4	chr1:11967940..11968599-chr2:53945834..53946359,2	MCF-7	breast:
5	chr2:53949409..53951180-chr2:53951221..53954133,2	K562	blood:
6	chr2:53967382..53969707-chr2:53992975..53994926,3	K562	blood:
7	chr2:53969486..53972381-chr2:53972663..53975031,2	K562	blood:
8	chr2:53925981..53927589-chr2:53940700..53943084,2	K562	blood:
9	chr2:53931144..53933214-chr2:53937294..53940246,2	K562	blood:
10	chr2:53931144..53933214-chr2:53937294..53940246,2	K562	blood:
11	chr2:53926965..53929338-chr2:53930911..53933227,2	K562	blood:
12	chr2:53970587..53973374-chr2:53992817..53996339,3	K562	blood:
13	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:
14	chr1:11967949..11968659-chr2:53945359..53946359,5	MCF-7	breast:
15	chr2:53969486..53972381-chr2:53972663..53975031,2	K562	blood:
16	chr2:53938900..53941731-chr2:54013134..54015288,2	K562	blood:
17	chr2:53669933..53670563-chr2:53942920..53943446,2	MCF-7	breast:
18	chr2:53927372..53929338-chr2:53931727..53933877,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-5	chr2:53941521-53941719	NONHSAT070694

No data

Variant related genes	Relation type
ENSG00000115239	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000068912	chromatin interactions

Extended variants
information (count: 1990 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1990 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3755120	chr2:53929855-53929856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183407776	chr2:53929856-53929857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559433064	chr2:53929861-53929862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115377749	chr2:53929906-53929907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541243087	chr2:53929944-53929945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188855706	chr2:53929957-53929958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112520438	chr2:53929965-53929966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565941857	chr2:53930049-53930050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549506522	chr2:53930053-53930054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576831143	chr2:53930064-53930065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532153512	chr2:53930072-53930073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375000203	chr2:53930086-53930087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552254728	chr2:53930110-53930111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76329252	chr2:53930115-53930116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528201036	chr2:53930129-53930130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565799589	chr2:53930192-53930193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534869377	chr2:53930197-53930198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192096559	chr2:53930211-53930212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568635893	chr2:53930286-53930287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371344341	chr2:53930299-53930300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556929541	chr2:53930323-53930324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541085748	chr2:53930335-53930336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539454421	chr2:53930355-53930356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553022820	chr2:53930369-53930370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182386767	chr2:53930433-53930434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540854074	chr2:53930436-53930437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548403556	chr2:53930438-53930439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561166390	chr2:53930449-53930450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574633505	chr2:53930555-53930556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559461642	chr2:53930560-53930561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530231373	chr2:53930578-53930579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187066334	chr2:53930594-53930595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112323087	chr2:53930597-53930598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17520505	chr2:53930621-53930622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191162610	chr2:53930680-53930681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548491594	chr2:53930682-53930683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144924870	chr2:53930683-53930684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542441037	chr2:53930709-53930710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567784684	chr2:53930747-53930748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537260027	chr2:53930749-53930750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147968583	chr2:53930793-53930794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17045123	chr2:53930819-53930820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs367593539	chr2:53930848-53930849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72793657	chr2:53930849-53930850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552984410	chr2:53930854-53930855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200763118	chr2:53930861-53930862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563814448	chr2:53930862-53930863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535983729	chr2:53930879-53930880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555588620	chr2:53930899-53930900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190320482	chr2:53930911-53930912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:53888200-53934200	Weak transcription	Lung	lung
4	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
5	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
6	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:53894400-53933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
9	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:53898200-53935400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:53898200-53935400	Weak transcription	Fetal Kidney	kidney
12	chr2:53900600-53935600	Weak transcription	K562	blood
13	chr2:53900800-53936400	Weak transcription	NH-A	brain
14	chr2:53900800-53936800	Weak transcription	NHLF	lung
15	chr2:53906600-53933800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:53906800-53935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
18	chr2:53909000-53934400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:53909000-53935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:53910000-53935200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:53910600-53933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:53911400-53935400	Weak transcription	Right Ventricle	heart
26	chr2:53911600-53936200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:53912400-53936200	Weak transcription	Gastric	stomach
28	chr2:53912600-53933600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:53913000-53936200	Weak transcription	Spleen	Spleen
30	chr2:53914200-53934800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:53917600-53936200	Weak transcription	Esophagus	oesophagus
32	chr2:53917800-53934000	Weak transcription	Ovary	ovary
33	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
34	chr2:53919000-53935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:53921800-53933600	Weak transcription	Brain Anterior Caudate	brain
36	chr2:53921800-53933800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:53921800-53935800	Weak transcription	Brain Substantia Nigra	brain
38	chr2:53922400-53935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:53924200-53934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:53924400-53935400	Weak transcription	Colonic Mucosa	Colon
41	chr2:53925000-53936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:53925200-53935200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:53925200-53935400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:53925400-53933600	Weak transcription	Fetal Intestine Small	intestine
45	chr2:53925400-53933600	Weak transcription	Fetal Stomach	stomach
46	chr2:53925400-53935800	Weak transcription	A549	lung
47	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
48	chr2:53926000-53935800	Weak transcription	HSMMtube	muscle
49	chr2:53926800-53936000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:53927000-53935800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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