Variant report

Variant	esv3455432
Chromosome Location	chr21:47801224-47806222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47805980..47808255-chr21:47808270..47811455,4	K562	blood:
2	chr21:47705622..47708113-chr21:47804733..47807044,2	K562	blood:
3	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:
4	chr21:47796873..47800064-chr21:47803863..47807599,5	K562	blood:
5	chr21:47798944..47801424-chr21:47809810..47811889,2	K562	blood:
6	chr21:47788835..47791511-chr21:47799288..47801354,2	K562	blood:
7	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:

Variant related genes	Relation type
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions

Extended variants
information (count: 459 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145218324	chr21:47801267-47801268	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75257961	chr21:47801268-47801269	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543789155	chr21:47801354-47801355	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537042899	chr21:47801374-47801375	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187383784	chr21:47801380-47801381	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	rs140923662	chr21:47801790-47801791	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371218090	chr21:47801793-47801794	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs375496615	chr21:47801794-47801795	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374909079	chr21:47801812-47801813	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573567800	chr21:47801825-47801826	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34260703	chr21:47801834-47801835	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559319719	chr21:47801862-47801863	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533130168	chr21:47801880-47801881	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552292328	chr21:47801884-47801885	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564248373	chr21:47801887-47801888	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78213973	chr21:47801906-47801907	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs549784488	chr21:47801907-47801908	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76874771	chr21:47801914-47801915	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75351856	chr21:47801915-47801916	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs77643189	chr21:47801921-47801922	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79769247	chr21:47801926-47801927	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56063951	chr21:47801930-47801931	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544829166	chr21:47801932-47801933	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546991222	chr21:47801942-47801943	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189268019	chr21:47801946-47801947	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193224361	chr21:47801950-47801951	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148053906	chr21:47801955-47801956	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	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:438 , 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	chr21:47792400-47801600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:47792400-47801600	Weak transcription	Primary B cells from cord blood	blood
23	chr21:47792400-47801600	Weak transcription	Liver	Liver
24	chr21:47792400-47801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:47792400-47801800	Weak transcription	Adipose Nuclei	Adipose
26	chr21:47792400-47801800	Weak transcription	Aorta	Aorta
27	chr21:47792400-47801800	Weak transcription	Fetal Kidney	kidney
28	chr21:47792400-47801800	Weak transcription	Pancreas	Pancrea
29	chr21:47792400-47802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:47792400-47804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:47792400-47810200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr21:47792800-47801400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr21:47792800-47801600	Weak transcription	Esophagus	oesophagus
34	chr21:47793000-47801400	Weak transcription	Brain Anterior Caudate	brain
35	chr21:47793000-47802600	Weak transcription	HepG2	liver
36	chr21:47793000-47809000	Weak transcription	Osteobl	bone
37	chr21:47794200-47801800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:47794400-47804200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr21:47794600-47804400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr21:47795000-47804600	Weak transcription	Fetal Heart	heart
41	chr21:47795000-47806000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:47795000-47821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:47795400-47801400	Weak transcription	Hela-S3	cervix
44	chr21:47795800-47801600	Weak transcription	HSMM	muscle
45	chr21:47795800-47806200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:47796000-47801600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:47796000-47801800	Weak transcription	Gastric	stomach
48	chr21:47796000-47801800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:47796000-47804200	Weak transcription	Ovary	ovary
50	chr21:47796000-47809800	Weak transcription	HSMMtube	muscle

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