Variant report

Variant	esv2517082
Chromosome Location	chr2:55261451-55263014
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:55215664..55218100-chr2:55259563..55261709,2	K562	blood:
2	chr2:55257553..55263983-chr2:55266645..55270936,7	K562	blood:
3	chr2:55257154..55258943-chr2:55260166..55262885,2	K562	blood:
4	chr2:55253484..55256107-chr2:55261121..55262893,2	K562	blood:
5	chr2:55256333..55257873-chr2:55260544..55262457,2	MCF-7	breast:
6	chr2:55249100..55249700-chr2:55260972..55261897,2	K562	blood:
7	chr2:55261058..55265438-chr2:55268460..55270489,4	MCF-7	breast:
8	chr2:55253656..55256107-chr2:55260589..55262893,2	K562	blood:
9	chr2:55251258..55253325-chr2:55261770..55263673,2	K562	blood:
10	chr2:55261847..55264222-chr2:55276252..55278273,3	MCF-7	breast:
11	chr2:55223597..55226125-chr2:55260747..55262677,2	K562	blood:
12	chr2:55253309..55255989-chr2:55259127..55262322,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115310	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564033826	chr2:55261456-55261457	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143010053	chr2:55261478-55261479	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2972063	chr2:55261487-55261488	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560180007	chr2:55261500-55261501	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146151591	chr2:55261507-55261508	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74753821	chr2:55261632-55261633	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568714823	chr2:55261634-55261635	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531462847	chr2:55261642-55261643	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184101930	chr2:55261643-55261644	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188603961	chr2:55261659-55261660	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539803602	chr2:55261722-55261723	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573506543	chr2:55261723-55261724	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553131919	chr2:55261739-55261740	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566952810	chr2:55261790-55261791	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542512161	chr2:55261865-55261866	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75514436	chr2:55261928-55261929	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2920859	chr2:55261931-55261932	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555953212	chr2:55261933-55261934	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs193156002	chr2:55261950-55261951	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544890513	chr2:55262016-55262017	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558407269	chr2:55262018-55262019	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184513152	chr2:55262028-55262029	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187308430	chr2:55262094-55262095	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139924145	chr2:55262133-55262134	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191709866	chr2:55262138-55262139	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149399296	chr2:55262145-55262146	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs56013263	chr2:55262159-55262160	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564746155	chr2:55262199-55262200	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184065071	chr2:55262218-55262219	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143966473	chr2:55262259-55262260	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571508863	chr2:55262294-55262295	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115905326	chr2:55262310-55262311	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546926324	chr2:55262312-55262313	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566759172	chr2:55262365-55262366	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535916143	chr2:55262371-55262372	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555916560	chr2:55262425-55262426	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148629167	chr2:55262504-55262505	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144212144	chr2:55262511-55262512	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547562555	chr2:55262546-55262547	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150154003	chr2:55262550-55262551	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147340161	chr2:55262603-55262604	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201332659	chr2:55262615-55262616	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189527978	chr2:55262624-55262625	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540575739	chr2:55262652-55262653	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112385251	chr2:55262665-55262666	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs180718620	chr2:55262690-55262691	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542287622	chr2:55262736-55262737	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562223726	chr2:55262742-55262743	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575771668	chr2:55262761-55262762	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375331078	chr2:55262772-55262773	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
2	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
3	chr2:55243000-55262400	Weak transcription	Hela-S3	cervix
4	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
5	chr2:55250400-55271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
7	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:55254200-55269800	Weak transcription	Aorta	Aorta
9	chr2:55254200-55270400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:55254400-55262600	Enhancers	Brain Hippocampus Middle	brain
11	chr2:55254800-55265000	Enhancers	Brain Substantia Nigra	brain
12	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:55256400-55266600	Weak transcription	Left Ventricle	heart
15	chr2:55256400-55270400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:55256600-55262200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:55256600-55264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:55256600-55265200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:55256800-55264200	Weak transcription	HSMMtube	muscle
20	chr2:55257000-55262400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:55257600-55261600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:55257600-55261600	Enhancers	Brain Angular Gyrus	brain
23	chr2:55258000-55261600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:55258000-55262800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:55258000-55263000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:55258200-55262800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:55259000-55264400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:55259000-55264600	Weak transcription	HMEC	breast
29	chr2:55259000-55264600	Weak transcription	NHLF	lung
30	chr2:55259000-55265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:55259000-55267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:55259000-55272800	Weak transcription	Small Intestine	intestine
33	chr2:55259200-55261600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:55259200-55261600	Enhancers	Brain Anterior Caudate	brain
35	chr2:55259200-55262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:55259200-55264400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:55259200-55272800	Weak transcription	Fetal Heart	heart
38	chr2:55259400-55261600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:55259400-55261600	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:55259400-55264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:55259400-55275200	Weak transcription	Esophagus	oesophagus
42	chr2:55259600-55263400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:55259600-55263400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:55259800-55261600	Enhancers	Primary B cells from cord blood	blood
45	chr2:55259800-55261600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:55259800-55261600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:55259800-55261600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:55259800-55261800	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:55259800-55261800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:55259800-55262400	Genic enhancers	K562	blood

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