Variant report

Variant	nsv979005
Chromosome Location	chr2:53982124-53989634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53974958..53977915-chr2:53980564..53982281,2	K562	blood:
2	chr2:53987362..53989220-chr2:53993362..53995987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143942	chromatin interactions
ENSG00000115239	chromatin interactions

Extended variants
information (count: 397 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560172658	chr2:53982127-53982128	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529363809	chr2:53982159-53982160	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539188982	chr2:53982179-53982180	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139173551	chr2:53982276-53982277	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192871328	chr2:53982331-53982332	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112897087	chr2:53982338-53982339	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530701968	chr2:53982366-53982367	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184681978	chr2:53982383-53982384	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570427471	chr2:53982400-53982401	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539020547	chr2:53982402-53982403	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552946943	chr2:53982425-53982426	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188651348	chr2:53982509-53982510	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181080801	chr2:53982510-53982511	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184201262	chr2:53982521-53982522	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111701955	chr2:53982527-53982528	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189042774	chr2:53982541-53982542	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533829950	chr2:53982542-53982543	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544885046	chr2:53982592-53982593	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558122194	chr2:53982622-53982623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578204186	chr2:53982636-53982637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572081796	chr2:53982643-53982644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540231205	chr2:53982658-53982659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151296447	chr2:53982725-53982726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386646214	chr2:53982740-53982741	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34026736	chr2:53982757-53982758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371435710	chr2:53982759-53982760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529327977	chr2:53982777-53982778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62137610	chr2:53982780-53982781	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561538483	chr2:53982781-53982782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138154139	chr2:53982852-53982853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550757921	chr2:53982862-53982863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564188061	chr2:53982877-53982878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149628770	chr2:53982918-53982919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546254415	chr2:53982928-53982929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566506541	chr2:53982929-53982930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535532675	chr2:53982941-53982942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112598495	chr2:53982958-53982959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180993937	chr2:53982972-53982973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538014198	chr2:53983053-53983054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144414880	chr2:53983054-53983055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77828729	chr2:53983107-53983108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553736932	chr2:53983110-53983111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377587742	chr2:53983114-53983115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112277299	chr2:53983115-53983116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573739227	chr2:53983116-53983117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545674948	chr2:53983117-53983118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576495110	chr2:53983122-53983123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564332329	chr2:53983123-53983124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566347270	chr2:53983124-53983125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572429190	chr2:53983172-53983173	Weak transcription Strong transcription Enhancers	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
9	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
14	chr2:53938400-53992400	Weak transcription	K562	blood
15	chr2:53943800-53983600	Weak transcription	Ovary	ovary
16	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
17	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
18	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:53954800-53983800	Weak transcription	Lung	lung
20	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
21	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:53957800-53983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:53958200-53994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:53960400-53983400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:53962200-53983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:53963000-53994000	Weak transcription	A549	lung
28	chr2:53964000-53983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:53964600-53982400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:53964600-53983000	Weak transcription	Fetal Lung	lung
31	chr2:53966200-53982600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:53967200-53990200	Weak transcription	Gastric	stomach
33	chr2:53968600-53983400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:53969400-53982200	Weak transcription	Brain Substantia Nigra	brain
35	chr2:53969400-53983400	Weak transcription	Brain Angular Gyrus	brain
36	chr2:53969600-53983400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:53969600-53983600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:53969600-53983600	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:53970000-53983600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:53971200-53983800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:53971200-53990200	Weak transcription	Pancreas	Pancrea
42	chr2:53973400-53994400	Weak transcription	Colonic Mucosa	Colon
43	chr2:53973600-53983000	Weak transcription	Fetal Brain Female	brain
44	chr2:53974600-53983800	Weak transcription	Fetal Stomach	stomach
45	chr2:53975200-53983000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:53975400-53982200	Weak transcription	HSMM	muscle
47	chr2:53975400-53983600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:53975400-53983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:53975600-53983600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:53975600-53989200	Weak transcription	Rectal Mucosa Donor 29	rectum

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