Variant report

Variant	esv3392078
Chromosome Location	chr2:100630420-100635418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100190277..100191226-chr2:100630057..100630911,3	MCF-7	breast:
2	chr2:100629972..100631740-chr2:100936209..100938926,2	MCF-7	breast:
3	chr2:100633994..100635890-chr2:100636752..100639350,2	MCF-7	breast:
4	chr2:100252895..100253779-chr2:100630074..100630900,2	MCF-7	breast:
5	chr2:100560855..100563199-chr2:100629509..100631798,2	K562	blood:
6	chr2:100252895..100253779-chr2:100630036..100630900,5	MCF-7	breast:
7	chr2:100623047..100624853-chr2:100629013..100630619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144218	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531726981	chr2:100630489-100630490	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181722891	chr2:100630515-100630516	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549209117	chr2:100630586-100630587	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536173735	chr2:100630597-100630598	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374905101	chr2:100630631-100630632	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146721489	chr2:100630642-100630643	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564236130	chr2:100630668-100630669	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527821301	chr2:100630674-100630675	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111621559	chr2:100630757-100630758	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547455211	chr2:100630788-100630789	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375458732	chr2:100630931-100630932	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145690936	chr2:100630943-100630944	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550505019	chr2:100630973-100630974	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145223477	chr2:100631003-100631004	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186785223	chr2:100631014-100631015	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72955722	chr2:100631047-100631048	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555960252	chr2:100631048-100631049	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572023970	chr2:100631071-100631072	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534734972	chr2:100631083-100631084	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549546939	chr2:100631088-100631089	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190236513	chr2:100631112-100631113	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78857991	chr2:100631120-100631121	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79425688	chr2:100631121-100631122	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557433297	chr2:100631155-100631156	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561508236	chr2:100631166-100631167	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577225481	chr2:100631211-100631212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73964402	chr2:100631216-100631217	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs60456923	chr2:100631264-100631265	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563241540	chr2:100631268-100631269	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199947492	chr2:100631329-100631330	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181396559	chr2:100631333-100631334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562822524	chr2:100631433-100631434	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186461866	chr2:100631469-100631470	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149168055	chr2:100631470-100631471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559528816	chr2:100631520-100631521	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527756358	chr2:100631574-100631575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76718658	chr2:100631629-100631630	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190120390	chr2:100631636-100631637	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114166211	chr2:100631656-100631657	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550238761	chr2:100631662-100631663	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143222030	chr2:100631667-100631668	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182372187	chr2:100631678-100631679	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543800089	chr2:100631681-100631682	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534379106	chr2:100631695-100631696	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557431105	chr2:100631739-100631740	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564988988	chr2:100631742-100631743	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571054170	chr2:100631783-100631784	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185129470	chr2:100631896-100631897	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62149315	chr2:100631917-100631918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114631889	chr2:100631942-100631943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:100623600-100632400	Weak transcription	Spleen	Spleen
5	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
8	chr2:100624200-100632600	Weak transcription	Gastric	stomach
9	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:100625000-100631200	Enhancers	NHDF-Ad	bronchial
11	chr2:100625200-100631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:100625200-100631200	Enhancers	NHLF	lung
13	chr2:100625200-100634600	Weak transcription	Fetal Thymus	thymus
14	chr2:100625400-100631200	Enhancers	Fetal Heart	heart
15	chr2:100625600-100632600	Weak transcription	Thymus	Thymus
16	chr2:100625800-100630800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:100626600-100632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:100626600-100632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:100626600-100632400	Weak transcription	Lung	lung
20	chr2:100626600-100632400	Weak transcription	Dnd41	blood
21	chr2:100626600-100634400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:100626600-100637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:100626800-100637600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:100627000-100637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:100627200-100635800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:100627600-100631400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:100627800-100631000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:100627800-100637800	Strong transcription	Primary B cells from cord blood	blood
29	chr2:100628000-100630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:100628000-100633000	Weak transcription	Primary T cells from cord blood	blood
31	chr2:100628200-100630800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:100628200-100635200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:100628400-100634600	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:100628600-100631200	Enhancers	Fetal Brain Male	brain
35	chr2:100628600-100632400	Weak transcription	Fetal Kidney	kidney
36	chr2:100628600-100634200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:100628800-100631000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:100629000-100632800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:100629200-100631400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:100629200-100631800	Enhancers	Osteobl	bone
41	chr2:100629200-100632000	Enhancers	NH-A	brain
42	chr2:100629200-100632400	Weak transcription	Fetal Lung	lung
43	chr2:100629200-100634200	Weak transcription	Right Atrium	heart
44	chr2:100629400-100631200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:100629400-100649600	Weak transcription	Fetal Brain Female	brain
46	chr2:100629800-100631200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:100629800-100631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:100630000-100630600	Enhancers	Ovary	ovary
49	chr2:100630000-100631200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:100630000-100631600	Weak transcription	Primary B cells from peripheral blood	blood

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