Variant report

Variant	esv3391805
Chromosome Location	chr2:21502047-21506645
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	chr2:21503800..21505769-chr2:21511701..21513411,2	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs575877186	chr2:21502060-21502061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541709792	chr2:21502067-21502068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561866345	chr2:21502068-21502069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62133443	chr2:21502085-21502086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571984781	chr2:21502164-21502165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534875415	chr2:21502200-21502201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540691506	chr2:21502231-21502232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113819489	chr2:21502246-21502247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368827575	chr2:21502264-21502265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79775203	chr2:21502284-21502285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191034672	chr2:21502323-21502324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563063743	chr2:21502332-21502333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531977271	chr2:21502377-21502378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548842722	chr2:21502399-21502400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116284098	chr2:21502492-21502493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571262344	chr2:21502585-21502586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534164602	chr2:21502599-21502600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547486488	chr2:21502631-21502632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570567657	chr2:21502632-21502633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539541160	chr2:21502642-21502643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149880040	chr2:21502646-21502647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374058535	chr2:21502655-21502656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575815235	chr2:21502676-21502677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535293179	chr2:21502695-21502696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146443107	chr2:21502697-21502698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182480341	chr2:21502707-21502708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13396400	chr2:21502727-21502728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563927954	chr2:21502730-21502731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577753115	chr2:21502757-21502758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564811135	chr2:21502770-21502771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543528178	chr2:21502772-21502773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563401138	chr2:21502789-21502790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116725592	chr2:21502845-21502846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72898472	chr2:21502852-21502853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562368892	chr2:21502869-21502870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187136479	chr2:21502871-21502872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548113337	chr2:21502922-21502923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139875883	chr2:21502971-21502972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79669883	chr2:21502992-21502993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549839446	chr2:21503015-21503016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143774329	chr2:21503054-21503055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535601232	chr2:21503055-21503056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555282524	chr2:21503072-21503073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565919942	chr2:21503081-21503082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367688804	chr2:21503119-21503120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534603762	chr2:21503183-21503184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558119123	chr2:21503213-21503214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536360022	chr2:21503214-21503215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577691310	chr2:21503216-21503217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543465307	chr2:21503221-21503222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21492000-21504600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:21493400-21511200	Weak transcription	Aorta	Aorta
3	chr2:21493800-21509000	Weak transcription	K562	blood
4	chr2:21494200-21504800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:21494200-21506200	Weak transcription	Right Atrium	heart
6	chr2:21494600-21504400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:21497800-21504800	Weak transcription	Spleen	Spleen
8	chr2:21498600-21504600	Weak transcription	Brain Angular Gyrus	brain
9	chr2:21499800-21506600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:21500200-21502200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:21500200-21502400	Weak transcription	Left Ventricle	heart
12	chr2:21500400-21504400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:21500800-21504400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:21501000-21502400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:21501000-21502600	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:21501400-21504600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:21501600-21502400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:21501600-21504000	Weak transcription	Fetal Intestine Large	intestine
19	chr2:21502000-21504000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:21502200-21502800	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:21502200-21503200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:21502200-21503200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:21502200-21504400	Enhancers	Fetal Heart	heart
24	chr2:21502200-21506600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:21502400-21502600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:21502400-21502800	Enhancers	Fetal Brain Male	brain
27	chr2:21502400-21502800	Enhancers	Left Ventricle	heart
28	chr2:21502400-21503200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:21502400-21503600	Enhancers	Fetal Muscle Leg	muscle
30	chr2:21502600-21503000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:21502600-21503000	Enhancers	Brain Hippocampus Middle	brain
32	chr2:21502600-21503200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:21502600-21503200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:21502600-21503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:21502800-21503800	Weak transcription	Left Ventricle	heart
36	chr2:21502800-21504000	Weak transcription	Fetal Brain Male	brain
37	chr2:21503000-21504800	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:21503200-21504200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:21503200-21504800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:21503200-21504800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:21503200-21505200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:21503200-21511800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:21503800-21504200	Enhancers	Left Ventricle	heart
44	chr2:21503800-21504400	Enhancers	HMEC	breast
45	chr2:21503800-21505400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:21503800-21505400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:21504000-21504200	Enhancers	Fetal Intestine Large	intestine
48	chr2:21504000-21504400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:21504000-21504600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:21504000-21505000	Enhancers	Fetal Brain Male	brain

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