Variant report

Variant	esv3415750
Chromosome Location	chr21:47052324-47057922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:
2	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
3	chr21:47044412..47047095-chr21:47051523..47054787,3	MCF-7	breast:
4	chr21:47015065..47016707-chr21:47057215..47058821,2	K562	blood:

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 338 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527897388	chr21:47052334-47052335	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552711903	chr21:47052409-47052410	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571063814	chr21:47052438-47052439	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150309675	chr21:47052463-47052464	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs137884714	chr21:47052473-47052474	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182805634	chr21:47052493-47052494	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535203801	chr21:47052498-47052499	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7282214	chr21:47052557-47052558	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs188016845	chr21:47052598-47052599	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs58921179	chr21:47052636-47052637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557886933	chr21:47052661-47052662	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576413540	chr21:47052707-47052708	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556176266	chr21:47052725-47052726	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145959732	chr21:47052745-47052746	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs34582204	chr21:47052786-47052787	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192819384	chr21:47052797-47052798	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs138696840	chr21:47052827-47052828	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569849008	chr21:47052830-47052831	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550689494	chr21:47052877-47052878	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs527739880	chr21:47052884-47052885	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552508950	chr21:47052897-47052898	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs373162503	chr21:47052920-47052921	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201534682	chr21:47052940-47052941	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141699288	chr21:47052948-47052949	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567753675	chr21:47052959-47052960	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535121655	chr21:47052986-47052987	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567393347	chr21:47053053-47053054	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs79828927	chr21:47053056-47053057	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs146239747	chr21:47053063-47053064	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374385193	chr21:47053064-47053065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs72497638	chr21:47053072-47053073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576298968	chr21:47053088-47053089	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537368885	chr21:47053094-47053095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555683124	chr21:47053097-47053098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573956401	chr21:47053102-47053103	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs202192694	chr21:47053108-47053109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142666745	chr21:47053110-47053111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs199742238	chr21:47053118-47053119	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs546797477	chr21:47053132-47053133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377652435	chr21:47053149-47053150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62216075	chr21:47053153-47053154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7275912	chr21:47053184-47053185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs60274885	chr21:47053194-47053195	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78515897	chr21:47053197-47053198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111517444	chr21:47053227-47053228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75090328	chr21:47053238-47053239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546275532	chr21:47053239-47053240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375300129	chr21:47053248-47053249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75912427	chr21:47053255-47053256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78051092	chr21:47053266-47053267	Weak transcription Enhancers	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47050000-47052600	Weak transcription	Spleen	Spleen
2	chr21:47050400-47052800	Weak transcription	Esophagus	oesophagus
3	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47051200-47052800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr21:47051200-47053200	Enhancers	Primary B cells from peripheral blood	blood
6	chr21:47051400-47052800	Enhancers	Primary T cells from cord blood	blood
7	chr21:47051600-47052600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr21:47051600-47052800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr21:47051600-47053200	Flanking Active TSS	Thymus	Thymus
10	chr21:47051800-47052600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr21:47051800-47052600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr21:47052000-47052400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:47052000-47052800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr21:47052000-47052800	Flanking Active TSS	GM12878-XiMat	blood
15	chr21:47052000-47053000	Flanking Active TSS	Fetal Thymus	thymus
16	chr21:47052200-47053000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr21:47052400-47052800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr21:47052400-47053000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:47052400-47053000	Enhancers	Dnd41	blood
20	chr21:47052600-47053200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:47052600-47053200	Enhancers	Spleen	Spleen
22	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr21:47052800-47053000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr21:47052800-47053200	Enhancers	Esophagus	oesophagus
25	chr21:47052800-47053200	Enhancers	GM12878-XiMat	blood
26	chr21:47052800-47053200	Enhancers	HMEC	breast
27	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
29	chr21:47053000-47054200	Enhancers	Fetal Thymus	thymus
30	chr21:47053000-47058000	Weak transcription	Dnd41	blood
31	chr21:47053200-47054200	Weak transcription	Thymus	Thymus
32	chr21:47053200-47054400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr21:47053200-47054600	Weak transcription	GM12878-XiMat	blood
34	chr21:47053200-47055400	Weak transcription	Esophagus	oesophagus
35	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
36	chr21:47054200-47054600	Active TSS	Thymus	Thymus
37	chr21:47054200-47055000	Flanking Active TSS	Fetal Thymus	thymus
38	chr21:47054400-47054600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:47054400-47054600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr21:47054400-47054800	Active TSS	NHDF-Ad	bronchial
44	chr21:47054400-47055000	Active TSS	HSMMtube	muscle
45	chr21:47054400-47055200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr21:47054400-47055200	Enhancers	HSMM	muscle
47	chr21:47054400-47055200	Enhancers	Osteobl	bone
48	chr21:47054400-47055400	Enhancers	Primary B cells from peripheral blood	blood
49	chr21:47054400-47056200	Enhancers	Gastric	stomach
50	chr21:47054600-47054800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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