Variant report

Variant	esv3395314
Chromosome Location	chr21:45862049-45864897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45859261..45863518-chr21:45866075..45869936,5	K562	blood:
2	chr21:45859068..45860909-chr21:45863003..45865327,2	MCF-7	breast:
3	chr21:45861428..45864413-chr21:45866330..45868291,2	MCF-7	breast:
4	chr21:45862338..45865243-chr21:45867115..45869720,2	MCF-7	breast:

Extended variants
information (count: 149 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45617143	chr21:45862062-45862063	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554075206	chr21:45862082-45862083	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs386819151	chr21:45862091-45862092	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs193120575	chr21:45862092-45862093	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs9975657	chr21:45862093-45862094	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536536731	chr21:45862119-45862120	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs116446154	chr21:45862136-45862137	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs562248521	chr21:45862153-45862154	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs529363192	chr21:45862189-45862190	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs547831964	chr21:45862204-45862205	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541107908	chr21:45862211-45862212	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs45520246	chr21:45862237-45862238	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372282659	chr21:45862247-45862248	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78172464	chr21:45862249-45862250	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370137190	chr21:45862255-45862256	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559537603	chr21:45862291-45862292	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577963445	chr21:45862292-45862293	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544985261	chr21:45862368-45862369	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563553137	chr21:45862374-45862375	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374394859	chr21:45862385-45862386	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367970060	chr21:45862397-45862398	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552529068	chr21:45862398-45862399	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570745128	chr21:45862414-45862415	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs537882190	chr21:45862422-45862423	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs377101087	chr21:45862427-45862428	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs3171483	chr21:45862431-45862432	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs372023936	chr21:45862440-45862441	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs375357745	chr21:45862448-45862449	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs555884167	chr21:45862459-45862460	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs41276640	chr21:45862460-45862461	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs559265740	chr21:45862464-45862465	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs542810479	chr21:45862505-45862506	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs147381008	chr21:45862506-45862507	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs572327433	chr21:45862572-45862573	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs45524533	chr21:45862589-45862590	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs45531935	chr21:45862595-45862596	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs45527034	chr21:45862615-45862616	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115812500	chr21:45862623-45862624	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs561951183	chr21:45862649-45862650	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs529255605	chr21:45862673-45862674	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs45623533	chr21:45862696-45862697	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561047490	chr21:45862750-45862751	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs143677896	chr21:45862790-45862791	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs371934412	chr21:45862801-45862802	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs527518025	chr21:45862842-45862843	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs45584134	chr21:45862879-45862880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs45460693	chr21:45862880-45862881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531511885	chr21:45862885-45862886	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550008988	chr21:45862899-45862900	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567979842	chr21:45862966-45862967	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
2	chr21:45820000-45863400	Weak transcription	Primary T cells from cord blood	blood
3	chr21:45839800-45866200	Weak transcription	Brain Angular Gyrus	brain
4	chr21:45851000-45864200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:45851200-45863200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:45851400-45863800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr21:45853600-45865000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr21:45853800-45863200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr21:45853800-45863800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:45854200-45862400	Strong transcription	Spleen	Spleen
11	chr21:45854800-45862200	Weak transcription	Lung	lung
12	chr21:45856800-45868400	Weak transcription	Fetal Intestine Small	intestine
13	chr21:45857600-45865200	Weak transcription	Brain Anterior Caudate	brain
14	chr21:45858000-45863400	Weak transcription	Adipose Nuclei	Adipose
15	chr21:45859200-45862800	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:45859200-45862800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:45859400-45870400	Weak transcription	Gastric	stomach
18	chr21:45859600-45865600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:45859800-45865000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:45859800-45868400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr21:45860400-45862400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:45861400-45862400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr21:45861400-45862800	Bivalent Enhancer	HepG2	liver
24	chr21:45861600-45862200	Strong transcription	Colonic Mucosa	Colon
25	chr21:45861600-45864600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr21:45862000-45862200	Enhancers	Fetal Heart	heart
27	chr21:45862000-45862400	Enhancers	Fetal Muscle Leg	muscle
28	chr21:45862200-45862400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr21:45862200-45862400	Bivalent Enhancer	Fetal Stomach	stomach
30	chr21:45862400-45863400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45862400-45864200	ZNF genes & repeats	Spleen	Spleen
32	chr21:45863200-45864400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr21:45863400-45863600	Bivalent/Poised TSS	HepG2	liver
34	chr21:45863400-45864800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:45863800-45864200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr21:45863800-45864800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr21:45863800-45866000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:45864000-45864200	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr21:45864200-45864800	Flanking Active TSS	HepG2	liver
40	chr21:45864200-45866400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr21:45864600-45865000	Enhancers	Primary B cells from peripheral blood	blood
42	chr21:45864800-45865000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr21:45864800-45865000	Enhancers	HepG2	liver
44	chr21:45864800-45868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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