Variant report

Variant	esv3503177
Chromosome Location	chr21:47800724-47805722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47705622..47708113-chr21:47804733..47807044,2	K562	blood:
2	chr21:47788835..47791511-chr21:47799288..47801354,2	K562	blood:
3	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:
4	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:
5	chr21:47743940..47746133-chr21:47798217..47801070,2	MCF-7	breast:
6	chr21:47798944..47801424-chr21:47809810..47811889,2	K562	blood:
7	chr21:47796873..47800064-chr21:47803863..47807599,5	K562	blood:

Variant related genes	Relation type
ENSG00000160294	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000182362	chromatin interactions

Extended variants
information (count: 434 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530167564	chr21:47800726-47800727	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548707152	chr21:47800867-47800868	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546781608	chr21:47800887-47800888	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11089063	chr21:47800907-47800908	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs534252899	chr21:47800913-47800914	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558550535	chr21:47800936-47800937	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112086800	chr21:47800961-47800962	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187764487	chr21:47800965-47800966	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538181810	chr21:47800969-47800970	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11089064	chr21:47800985-47800986	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs575015222	chr21:47801008-47801009	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11908771	chr21:47801052-47801053	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34108721	chr21:47801090-47801091	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542067233	chr21:47801106-47801107	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397867115	chr21:47801107-47801108	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374309299	chr21:47801112-47801113	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7282944	chr21:47801113-47801114	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565236189	chr21:47801133-47801134	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10523538	chr21:47801141-47801142	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554294907	chr21:47801173-47801174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192741293	chr21:47801202-47801203	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75762928	chr21:47801219-47801220	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145218324	chr21:47801267-47801268	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75257961	chr21:47801268-47801269	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543789155	chr21:47801354-47801355	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537042899	chr21:47801374-47801375	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187383784	chr21:47801380-47801381	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192084045	chr21:47801410-47801411	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146414759	chr21:47801416-47801417	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559471542	chr21:47801452-47801453	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527798287	chr21:47801486-47801487	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552239127	chr21:47801501-47801502	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34950974	chr21:47801504-47801505	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs375577090	chr21:47801562-47801563	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537838358	chr21:47801580-47801581	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200095782	chr21:47801584-47801585	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143253402	chr21:47801610-47801611	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs200874740	chr21:47801619-47801620	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536116120	chr21:47801643-47801644	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs554085212	chr21:47801644-47801645	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144777264	chr21:47801652-47801653	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200174202	chr21:47801663-47801664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539565988	chr21:47801665-47801666	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557885700	chr21:47801674-47801675	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536739614	chr21:47801706-47801707	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78484478	chr21:47801725-47801726	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368111523	chr21:47801739-47801740	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371666981	chr21:47801769-47801770	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs34809663	chr21:47801787-47801788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374511493	chr21:47801789-47801790	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47774200-47801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
3	chr21:47786200-47802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:47787200-47813200	Weak transcription	NH-A	brain
5	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
6	chr21:47787800-47813600	Weak transcription	Colon Smooth Muscle	Colon
7	chr21:47788000-47813000	Weak transcription	NHDF-Ad	bronchial
8	chr21:47788000-47813600	Weak transcription	HUVEC	blood vessel
9	chr21:47789000-47802200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:47789400-47807200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:47789800-47804800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:47789800-47805600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr21:47789800-47809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:47790400-47805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:47790600-47805800	Weak transcription	Colonic Mucosa	Colon
18	chr21:47792200-47801800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:47792200-47804600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr21:47792200-47812800	Weak transcription	Fetal Brain Male	brain
21	chr21:47792400-47800800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr21:47792400-47801200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:47792400-47801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr21:47792400-47801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr21:47792400-47801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr21:47792400-47801200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr21:47792400-47801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:47792400-47801200	Weak transcription	Brain Hippocampus Middle	brain
29	chr21:47792400-47801200	Weak transcription	Brain Substantia Nigra	brain
30	chr21:47792400-47801600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr21:47792400-47801600	Weak transcription	Primary B cells from cord blood	blood
32	chr21:47792400-47801600	Weak transcription	Liver	Liver
33	chr21:47792400-47801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:47792400-47801800	Weak transcription	Adipose Nuclei	Adipose
35	chr21:47792400-47801800	Weak transcription	Aorta	Aorta
36	chr21:47792400-47801800	Weak transcription	Fetal Kidney	kidney
37	chr21:47792400-47801800	Weak transcription	Pancreas	Pancrea
38	chr21:47792400-47802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:47792400-47804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr21:47792400-47810200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr21:47792800-47801200	Weak transcription	A549	lung
42	chr21:47792800-47801400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:47792800-47801600	Weak transcription	Esophagus	oesophagus
44	chr21:47793000-47801400	Weak transcription	Brain Anterior Caudate	brain
45	chr21:47793000-47802600	Weak transcription	HepG2	liver
46	chr21:47793000-47809000	Weak transcription	Osteobl	bone
47	chr21:47794200-47801800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:47794400-47804200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr21:47794600-47804400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr21:47795000-47804600	Weak transcription	Fetal Heart	heart

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