Variant report

Variant	esv3355532
Chromosome Location	chr21:40783721-40786949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:40784840-40784990	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr21:40784760-40784910	WI-38	lung:	n/a	n/a
3	CTCF	chr21:40784780-40784930	GM12871	blood:	n/a	n/a
4	IRF1	chr21:40786459-40786467	K562	blood:	n/a	n/a
5	MAFK	chr21:40783561-40783742	IMR90	lung:	n/a	n/a
6	MAFK	chr21:40783656-40783721	HepG2	liver:	n/a	n/a
7	MAFK	chr21:40783547-40783787	HepG2	liver:	n/a	n/a
8	POLR2A	chr21:40785910-40785952	MCF-7	breast:	n/a	n/a
9	POLR2A	chr21:40786253-40786259	MCF-7	breast:	n/a	n/a
10	POLR2A	chr21:40785899-40785909	MCF-7	breast:	n/a	n/a
11	POLR2A	chr21:40785903-40786017	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr21:40784434-40784582	K562	blood:	n/a	n/a
13	POLR2A	chr21:40784542-40784582	ProgFib	skin:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40758859..40762254-chr21:40785710..40788224,3	MCF-7	breast:
2	chr21:40784167..40788125-chr21:40789270..40793629,5	K562	blood:
3	chr21:40782804..40784995-chr21:40816330..40818172,2	K562	blood:
4	chr21:40784043..40786943-chr21:40818304..40821060,2	K562	blood:
5	chr21:40785010..40786571-chr21:40794751..40798085,3	K562	blood:
6	chr21:40783103..40784656-chr21:40785669..40787209,3	MCF-7	breast:
7	chr21:40719273..40720815-chr21:40782667..40784260,2	K562	blood:
8	chr21:40762468..40764445-chr21:40783033..40785602,2	K562	blood:
9	chr21:40759292..40761069-chr21:40781933..40784921,2	MCF-7	breast:
10	chr21:40783103..40784656-chr21:40785669..40787209,3	MCF-7	breast:
11	chr21:40784172..40786571-chr21:40796585..40798717,2	K562	blood:
12	chr21:40786710..40789568-chr21:40816730..40818254,2	K562	blood:

No data

Variant related genes	Relation type
LCA5L	TF binding region
ENSG00000182093	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000185437	chromatin interactions
ENSG00000205581	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541133417	chr21:40783891-40783892	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs554661720	chr21:40783894-40783895	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs35057724	chr21:40783895-40783896	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs574509373	chr21:40783955-40783956	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs189473954	chr21:40783970-40783971	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs77995104	chr21:40784003-40784004	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs139133612	chr21:40784083-40784084	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs201610753	chr21:40784130-40784131	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs367978499	chr21:40784144-40784145	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567672092	chr21:40784160-40784161	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs372484164	chr21:40784175-40784176	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs534675137	chr21:40784188-40784189	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs75265747	chr21:40784224-40784225	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs568001543	chr21:40784239-40784240	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs73906032	chr21:40784240-40784241	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs143121614	chr21:40784247-40784248	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs2837012	chr21:40784310-40784311	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs201091732	chr21:40784422-40784423	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs550540540	chr21:40784467-40784468	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs375147715	chr21:40784474-40784475	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs377607164	chr21:40784526-40784527	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs148840231	chr21:40784527-40784528	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs58572253	chr21:40784545-40784546	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs71330367	chr21:40784550-40784551	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs569662896	chr21:40784557-40784558	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs547462176	chr21:40784558-40784559	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs144654088	chr21:40784591-40784592	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs148514011	chr21:40784625-40784626	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558532933	chr21:40784635-40784636	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565873557	chr21:40784660-40784661	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs181543579	chr21:40784678-40784679	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs536651336	chr21:40784711-40784712	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369185067	chr21:40784724-40784725	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs78634661	chr21:40784725-40784726	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs537088134	chr21:40784747-40784748	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs556985251	chr21:40784858-40784859	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs373255254	chr21:40784916-40784917	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs557319675	chr21:40784925-40784926	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs141769089	chr21:40784959-40784960	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs2837013	chr21:40784987-40784988	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs73365943	chr21:40785003-40785004	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573399833	chr21:40785030-40785031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374452042	chr21:40785058-40785059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111448065	chr21:40785064-40785065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185688384	chr21:40785095-40785096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542040710	chr21:40785176-40785177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561873311	chr21:40785194-40785195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530909725	chr21:40785245-40785246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550603820	chr21:40785288-40785289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188982828	chr21:40785293-40785294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40768200-40784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:40770200-40785800	Weak transcription	Esophagus	oesophagus
4	chr21:40772600-40786400	Weak transcription	Fetal Heart	heart
5	chr21:40776600-40786200	Weak transcription	K562	blood
6	chr21:40778200-40783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
8	chr21:40778400-40784400	Weak transcription	NHDF-Ad	bronchial
9	chr21:40778400-40787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:40778400-40787200	Weak transcription	NHEK	skin
11	chr21:40778400-40787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:40778400-40787400	Weak transcription	HSMM	muscle
13	chr21:40778400-40787800	Weak transcription	Spleen	Spleen
14	chr21:40778400-40788200	Weak transcription	Fetal Brain Male	brain
15	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
16	chr21:40778800-40784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:40779000-40783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr21:40779200-40784800	Weak transcription	Gastric	stomach
19	chr21:40779200-40785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:40779200-40788800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:40780000-40784400	Weak transcription	Fetal Lung	lung
25	chr21:40780200-40784400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr21:40780200-40786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:40780200-40791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:40780400-40784600	Weak transcription	Fetal Intestine Large	intestine
29	chr21:40780400-40785600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr21:40780400-40786400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:40780600-40783800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:40780600-40784400	Weak transcription	Ovary	ovary
34	chr21:40780600-40784600	Weak transcription	Brain Anterior Caudate	brain
35	chr21:40780600-40786800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr21:40780600-40787400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:40780600-40787800	Weak transcription	Adipose Nuclei	Adipose
38	chr21:40780600-40787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:40780600-40789800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:40780600-40790000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr21:40780600-40790600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr21:40780600-40794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:40780600-40801800	Weak transcription	Lung	lung
44	chr21:40780800-40787400	Weak transcription	Fetal Brain Female	brain
45	chr21:40780800-40787400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr21:40780800-40789200	Weak transcription	Fetal Intestine Small	intestine
47	chr21:40780800-40791800	Weak transcription	Brain Substantia Nigra	brain
48	chr21:40780800-40794200	Weak transcription	Brain Germinal Matrix	brain
49	chr21:40781000-40788000	Weak transcription	Primary T cells from cord blood	blood
50	chr21:40781000-40788000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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