Variant report

Variant	esv3395554
Chromosome Location	chr21:40512728-40517052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40510400..40513231-chr21:40543970..40546518,2	K562	blood:
2	chr21:40515045..40517446-chr21:40522211..40524876,3	MCF-7	breast:
3	chr21:40500620..40503419-chr21:40514957..40517352,2	MCF-7	breast:
4	chr21:40187682..40190648-chr21:40515051..40517560,2	K562	blood:

Variant related genes	Relation type
ENSG00000235701	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372964458	chr21:40512742-40512743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567919947	chr21:40512743-40512744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141239761	chr21:40512751-40512752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572270091	chr21:40512752-40512753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534813521	chr21:40512780-40512781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs8127987	chr21:40512793-40512794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs190418831	chr21:40512830-40512831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373404709	chr21:40512847-40512848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543846434	chr21:40512849-40512850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2836920	chr21:40512918-40512919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs115154037	chr21:40512922-40512923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545292119	chr21:40512926-40512927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565101522	chr21:40512991-40512992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113144171	chr21:40513002-40513003	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370130432	chr21:40513004-40513005	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9305665	chr21:40513060-40513061	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs201447268	chr21:40513215-40513216	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144603899	chr21:40513216-40513217	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199989199	chr21:40513217-40513218	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs398121645	chr21:40513221-40513222	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150930716	chr21:40513247-40513248	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73355826	chr21:40513254-40513255	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376555228	chr21:40513267-40513268	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549775124	chr21:40513274-40513275	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181247933	chr21:40513327-40513328	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2210263	chr21:40513382-40513383	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565384118	chr21:40513383-40513384	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538962286	chr21:40513409-40513410	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370945897	chr21:40513454-40513455	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs28399794	chr21:40513473-40513474	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115062203	chr21:40513552-40513553	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186346013	chr21:40513559-40513560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73355827	chr21:40513593-40513594	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574905732	chr21:40513612-40513613	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375669567	chr21:40513625-40513626	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191194426	chr21:40513669-40513670	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557343429	chr21:40513686-40513687	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs544923412	chr21:40513699-40513700	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140738338	chr21:40513727-40513728	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545327646	chr21:40513742-40513743	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12482156	chr21:40513750-40513751	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs150478810	chr21:40513808-40513809	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182112715	chr21:40513811-40513812	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138488160	chr21:40513812-40513813	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79660324	chr21:40513844-40513845	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529829452	chr21:40513880-40513881	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372926979	chr21:40513897-40513898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572261296	chr21:40513913-40513914	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115919219	chr21:40513938-40513939	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542489364	chr21:40513959-40513960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40509400-40513600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:40509600-40513200	Weak transcription	Placenta	Placenta
3	chr21:40509800-40513200	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:40509800-40513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40509800-40513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:40509800-40515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:40510200-40513400	Weak transcription	Fetal Lung	lung
8	chr21:40510600-40515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:40511600-40513400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:40512000-40514200	Enhancers	Fetal Thymus	thymus
11	chr21:40512400-40513000	Weak transcription	Thymus	Thymus
12	chr21:40512800-40514200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr21:40513000-40514000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:40513000-40514000	Enhancers	Thymus	Thymus
15	chr21:40513200-40513400	Enhancers	NHDF-Ad	bronchial
16	chr21:40513200-40513800	Enhancers	Fetal Muscle Leg	muscle
17	chr21:40513200-40513800	Enhancers	Stomach Mucosa	stomach
18	chr21:40513200-40514000	Enhancers	HSMMtube	muscle
19	chr21:40513200-40514200	Enhancers	Placenta	Placenta
20	chr21:40513400-40514000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:40513400-40514000	Enhancers	Fetal Lung	lung
22	chr21:40513400-40514000	Flanking Active TSS	NHDF-Ad	bronchial
23	chr21:40513400-40514400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr21:40513600-40513800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:40513600-40513800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:40513600-40513800	Bivalent Enhancer	NHLF	lung
27	chr21:40513600-40514200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr21:40513800-40514000	Bivalent Enhancer	HepG2	liver
29	chr21:40513800-40514200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr21:40513800-40514400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:40513800-40515000	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:40514000-40514200	Enhancers	Psoas Muscle	Psoas
33	chr21:40514200-40517000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr21:40514200-40520200	Weak transcription	Psoas Muscle	Psoas
35	chr21:40515000-40515600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr21:40515000-40516400	Enhancers	Fetal Muscle Leg	muscle
37	chr21:40515800-40516400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:40517000-40517800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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