Variant report

Variant	esv3355029
Chromosome Location	chr2:96583025-96587323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 244 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189718865	chr2:96583057-96583058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574552154	chr2:96583136-96583137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183734413	chr2:96583142-96583143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554342086	chr2:96583165-96583166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201622716	chr2:96583166-96583167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577497402	chr2:96583244-96583245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564204656	chr2:96583265-96583266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552518983	chr2:96583288-96583289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564160674	chr2:96583302-96583303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187462692	chr2:96583312-96583313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370188655	chr2:96583377-96583378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575311434	chr2:96583385-96583386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544184359	chr2:96583391-96583392	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561005852	chr2:96583394-96583395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529811229	chr2:96583395-96583396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546503899	chr2:96583419-96583420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192054474	chr2:96583440-96583441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374481473	chr2:96583441-96583442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183671723	chr2:96583449-96583450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187659190	chr2:96583456-96583457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568764136	chr2:96583457-96583458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537858709	chr2:96583478-96583479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548170267	chr2:96583518-96583519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568264324	chr2:96583521-96583522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549357250	chr2:96583526-96583527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191649323	chr2:96583527-96583528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577388907	chr2:96583528-96583529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182695009	chr2:96583540-96583541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556822051	chr2:96583546-96583547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576798106	chr2:96583573-96583574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567764932	chr2:96583574-96583575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528186915	chr2:96583595-96583596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560846319	chr2:96583612-96583613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574617920	chr2:96583622-96583623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376196090	chr2:96583632-96583633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559964680	chr2:96583644-96583645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34084197	chr2:96583681-96583682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532339477	chr2:96583700-96583701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552046420	chr2:96583710-96583711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562484541	chr2:96583723-96583724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4605406	chr2:96583735-96583736	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs186684506	chr2:96583753-96583754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191497643	chr2:96583806-96583807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4613327	chr2:96583823-96583824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547870349	chr2:96583825-96583826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570813160	chr2:96583855-96583856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540062280	chr2:96583862-96583863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556476097	chr2:96583870-96583871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184479167	chr2:96583873-96583874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536139444	chr2:96583889-96583890	Weak transcription Strong transcription Enhancers	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:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
2	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
3	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
5	chr2:96543800-96596200	Weak transcription	K562	blood
6	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
12	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:96556000-96583800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:96556400-96585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
17	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:96556600-96583200	Weak transcription	Fetal Lung	lung
20	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:96558200-96583200	Weak transcription	Ovary	ovary
22	chr2:96572000-96583200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:96573200-96584800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:96573600-96587800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:96574600-96627600	Weak transcription	HSMM	muscle
27	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:96575200-96585000	Weak transcription	Lung	lung
29	chr2:96575200-96589800	Weak transcription	Colonic Mucosa	Colon
30	chr2:96575600-96588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:96575800-96592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:96575800-96595600	Strong transcription	Dnd41	blood
33	chr2:96576000-96594800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:96576400-96590400	Weak transcription	Right Ventricle	heart
35	chr2:96576600-96596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:96576800-96596200	Weak transcription	Spleen	Spleen
37	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
38	chr2:96577000-96589200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:96577200-96583600	Weak transcription	HepG2	liver
40	chr2:96577400-96585600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:96577600-96583600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:96577600-96587800	Weak transcription	HMEC	breast
43	chr2:96577600-96590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:96577600-96591600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:96577600-96592600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:96577600-96593400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:96577600-96600200	Weak transcription	A549	lung
48	chr2:96577800-96588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:96577800-96593200	Weak transcription	NHEK	skin
50	chr2:96577800-96594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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