Variant report

Variant	esv3459691
Chromosome Location	chr2:96585183-96587250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564377472	chr2:96585189-96585190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577960515	chr2:96585191-96585192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543799055	chr2:96585210-96585211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563813692	chr2:96585213-96585214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529403872	chr2:96585231-96585232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549627540	chr2:96585232-96585233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560306301	chr2:96585239-96585240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528653745	chr2:96585240-96585241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145619067	chr2:96585262-96585263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551812055	chr2:96585265-96585266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185557257	chr2:96585268-96585269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564564932	chr2:96585296-96585297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188011592	chr2:96585303-96585304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549493599	chr2:96585308-96585309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561333454	chr2:96585318-96585319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528825672	chr2:96585322-96585323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561668892	chr2:96585329-96585330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547013184	chr2:96585336-96585337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180810802	chr2:96585347-96585348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186140311	chr2:96585349-96585350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192258420	chr2:96585351-96585352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551546396	chr2:96585356-96585357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183926614	chr2:96585357-96585358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138323208	chr2:96585360-96585361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185917750	chr2:96585364-96585365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190729094	chr2:96585383-96585384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370180639	chr2:96585388-96585389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577991986	chr2:96585395-96585396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543885836	chr2:96585400-96585401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563651989	chr2:96585406-96585407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371375108	chr2:96585409-96585410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574221904	chr2:96585418-96585419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141890742	chr2:96585419-96585420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182562885	chr2:96585422-96585423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575005854	chr2:96585438-96585439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545571367	chr2:96585453-96585454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113377372	chr2:96585461-96585462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531086356	chr2:96585467-96585468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539104675	chr2:96585473-96585474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549397662	chr2:96585486-96585487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112691624	chr2:96585515-96585516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569325842	chr2:96585519-96585520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150256107	chr2:96585525-96585526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112464761	chr2:96585546-96585547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187115454	chr2:96585551-96585552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534557406	chr2:96585588-96585589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535800812	chr2:96585592-96585593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571595352	chr2:96585593-96585594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12471927	chr2:96585613-96585614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557261173	chr2:96585619-96585620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Neuroblastoma	18574593	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
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
2	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
4	chr2:96543800-96596200	Weak transcription	K562	blood
5	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
11	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
14	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:96573600-96587800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:96574600-96627600	Weak transcription	HSMM	muscle
20	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:96575200-96589800	Weak transcription	Colonic Mucosa	Colon
22	chr2:96575600-96588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:96575800-96592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:96575800-96595600	Strong transcription	Dnd41	blood
25	chr2:96576000-96594800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:96576400-96590400	Weak transcription	Right Ventricle	heart
27	chr2:96576600-96596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:96576800-96596200	Weak transcription	Spleen	Spleen
29	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
30	chr2:96577000-96589200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:96577400-96585600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:96577600-96587800	Weak transcription	HMEC	breast
33	chr2:96577600-96590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:96577600-96591600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:96577600-96592600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:96577600-96593400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:96577600-96600200	Weak transcription	A549	lung
38	chr2:96577800-96588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:96577800-96593200	Weak transcription	NHEK	skin
40	chr2:96577800-96594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:96577800-96595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:96577800-96596400	Weak transcription	Brain Substantia Nigra	brain
43	chr2:96577800-96603400	Weak transcription	Osteobl	bone
44	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
45	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:96578000-96645000	Weak transcription	NH-A	brain
48	chr2:96578200-96586800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:96578600-96588000	Weak transcription	Thymus	Thymus
50	chr2:96579000-96596600	Weak transcription	GM12878-XiMat	blood

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