Variant report

Variant	esv1006886
Chromosome Location	chr21:47799777-47804819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47798424..47800527-chr21:47877024..47878528,2	MCF-7	breast:
2	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:
3	chr21:47796873..47800064-chr21:47803863..47807599,5	K562	blood:
4	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:
5	chr21:47788835..47791511-chr21:47799288..47801354,2	K562	blood:
6	chr21:47797361..47799888-chr21:47812177..47813835,2	K562	blood:
7	chr21:47743940..47746133-chr21:47798217..47801070,2	MCF-7	breast:
8	chr21:47796873..47800064-chr21:47803863..47807599,5	K562	blood:
9	chr21:47705622..47708113-chr21:47804733..47807044,2	K562	blood:
10	chr21:47798944..47801424-chr21:47809810..47811889,2	K562	blood:

No data

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

Extended variants
information (count: 426 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:426 , 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	rs112672165	chr21:47799810-47799811	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544411423	chr21:47799852-47799853	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148547816	chr21:47799883-47799884	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75501888	chr21:47799961-47799962	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545250489	chr21:47800037-47800038	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183550817	chr21:47800045-47800046	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371332550	chr21:47800060-47800061	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552854585	chr21:47800061-47800062	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560120573	chr21:47800132-47800133	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527285275	chr21:47800137-47800138	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376784962	chr21:47800138-47800139	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552485311	chr21:47800153-47800154	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570767729	chr21:47800156-47800157	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12627184	chr21:47800195-47800196	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531587086	chr21:47800202-47800203	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141805654	chr21:47800276-47800277	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550020245	chr21:47800277-47800278	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186401154	chr21:47800278-47800279	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189976410	chr21:47800294-47800295	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536785418	chr21:47800349-47800350	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117584451	chr21:47800397-47800398	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs182493900	chr21:47800399-47800400	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533934965	chr21:47800408-47800409	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558873888	chr21:47800419-47800420	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577124316	chr21:47800434-47800435	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544475562	chr21:47800453-47800454	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556356598	chr21:47800496-47800497	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574678495	chr21:47800498-47800499	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541953912	chr21:47800510-47800511	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142999772	chr21:47800573-47800574	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28458364	chr21:47800576-47800577	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527338363	chr21:47800591-47800592	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2839235	chr21:47800592-47800593	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs564039795	chr21:47800598-47800599	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11702619	chr21:47800602-47800603	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550606106	chr21:47800620-47800621	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10483082	chr21:47800628-47800629	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs151114135	chr21:47800649-47800650	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529077386	chr21:47800697-47800698	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530167564	chr21:47800726-47800727	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548707152	chr21:47800867-47800868	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546781608	chr21:47800887-47800888	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11089063	chr21:47800907-47800908	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs534252899	chr21:47800913-47800914	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558550535	chr21:47800936-47800937	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112086800	chr21:47800961-47800962	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187764487	chr21:47800965-47800966	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538181810	chr21:47800969-47800970	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11089064	chr21:47800985-47800986	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs575015222	chr21:47801008-47801009	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	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:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47764200-47800200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr21:47774200-47801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
4	chr21:47786200-47802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47787200-47813200	Weak transcription	NH-A	brain
6	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
7	chr21:47787800-47813600	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:47788000-47813000	Weak transcription	NHDF-Ad	bronchial
9	chr21:47788000-47813600	Weak transcription	HUVEC	blood vessel
10	chr21:47789000-47802200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:47789400-47807200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:47789800-47804800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr21:47789800-47805600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr21:47789800-47809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:47790400-47805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:47790600-47805800	Weak transcription	Colonic Mucosa	Colon
19	chr21:47790800-47799800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:47790800-47800000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr21:47791400-47800000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr21:47791600-47800000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:47792000-47799800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:47792200-47801800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:47792200-47804600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr21:47792200-47812800	Weak transcription	Fetal Brain Male	brain
27	chr21:47792400-47800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr21:47792400-47800800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr21:47792400-47801200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr21:47792400-47801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:47792400-47801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr21:47792400-47801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:47792400-47801200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr21:47792400-47801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:47792400-47801200	Weak transcription	Brain Hippocampus Middle	brain
36	chr21:47792400-47801200	Weak transcription	Brain Substantia Nigra	brain
37	chr21:47792400-47801600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr21:47792400-47801600	Weak transcription	Primary B cells from cord blood	blood
39	chr21:47792400-47801600	Weak transcription	Liver	Liver
40	chr21:47792400-47801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:47792400-47801800	Weak transcription	Adipose Nuclei	Adipose
42	chr21:47792400-47801800	Weak transcription	Aorta	Aorta
43	chr21:47792400-47801800	Weak transcription	Fetal Kidney	kidney
44	chr21:47792400-47801800	Weak transcription	Pancreas	Pancrea
45	chr21:47792400-47802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:47792400-47804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:47792400-47810200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr21:47792800-47801200	Weak transcription	A549	lung
49	chr21:47792800-47801400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr21:47792800-47801600	Weak transcription	Esophagus	oesophagus

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