Variant report

Variant	esv3439673
Chromosome Location	chr21:39994174-39994735
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	chr21:39991146..39992794-chr21:39993901..39996055,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532500238	chr21:39994182-39994183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552422591	chr21:39994211-39994212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73442440	chr21:39994242-39994243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114013762	chr21:39994244-39994245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368966521	chr21:39994246-39994247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563135250	chr21:39994249-39994250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57897308	chr21:39994266-39994267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73908333	chr21:39994281-39994282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536555405	chr21:39994330-39994331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201978153	chr21:39994344-39994345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80346364	chr21:39994346-39994347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372378859	chr21:39994348-39994349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556471144	chr21:39994358-39994359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75095607	chr21:39994359-39994360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77496968	chr21:39994360-39994361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533131494	chr21:39994379-39994380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544975135	chr21:39994401-39994402	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558399834	chr21:39994427-39994428	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543788569	chr21:39994433-39994434	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572107644	chr21:39994434-39994435	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541305375	chr21:39994435-39994436	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561157658	chr21:39994442-39994443	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574662257	chr21:39994478-39994479	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs116659326	chr21:39994483-39994484	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567189546	chr21:39994485-39994486	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187752703	chr21:39994512-39994513	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370060489	chr21:39994573-39994574	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111067073	chr21:39994574-39994575	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372875299	chr21:39994582-39994583	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528593787	chr21:39994622-39994623	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548654510	chr21:39994629-39994630	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370126051	chr21:39994651-39994652	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567492401	chr21:39994681-39994682	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111067074	chr21:39994689-39994690	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550134265	chr21:39994695-39994696	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs199624945	chr21:39994697-39994698	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs569911227	chr21:39994714-39994715	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs563478884	chr21:39994723-39994724	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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 myeloid leukemia	20729466	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
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39989200-39997600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:39992600-39994200	Enhancers	Fetal Muscle Leg	muscle
3	chr21:39993200-39994400	Enhancers	Fetal Muscle Trunk	muscle
4	chr21:39993200-39994600	Enhancers	Aorta	Aorta
5	chr21:39993200-39995600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:39993200-39996600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:39993400-39994400	Weak transcription	Pancreas	Pancrea
8	chr21:39993800-39995600	Enhancers	HepG2	liver
9	chr21:39994200-39994600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:39994400-39994600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:39994400-39994600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:39994400-39994600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:39994400-39994800	Active TSS	Fetal Lung	lung
14	chr21:39994400-39994800	Enhancers	Spleen	Spleen
15	chr21:39994400-39995200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr21:39994400-39995200	ZNF genes & repeats	Fetal Kidney	kidney
17	chr21:39994400-39995200	Enhancers	Gastric	stomach
18	chr21:39994400-39995200	Enhancers	Pancreas	Pancrea
19	chr21:39994600-39995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:39994600-39995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:39994600-39995600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:39994600-39996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:39994600-39996000	Weak transcription	Aorta	Aorta

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