Variant report

Variant	rs542310866
Chromosome Location	chr21:46528548-46528549
allele	C/T
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	chr21:46524740..46528756-chr21:46537470..46542914,5	K562	blood:
2	chr21:46515956..46522233-chr21:46528087..46531013,7	K562	blood:
3	chr21:46525858..46528756-chr21:46540058..46542914,3	K562	blood:
4	chr21:46525704..46527706-chr21:46528472..46530391,2	K562	blood:
5	chr21:46527903..46530135-chr21:46532581..46534213,2	MCF-7	breast:
6	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
7	chr21:46527019..46529206-chr21:46534528..46536813,2	MCF-7	breast:
8	chr21:46527215..46529238-chr21:46529546..46531877,2	MCF-7	breast:
9	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:
10	chr21:46522238..46524278-chr21:46526397..46529123,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000267857	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	esv2043847	chr21:46528480-46528920	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:46521200-46528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:46522800-46529600	Weak transcription	NH-A	brain
6	chr21:46523000-46529200	Weak transcription	Colonic Mucosa	Colon
7	chr21:46523000-46529400	Weak transcription	NHLF	lung
8	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:46523200-46529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:46524600-46528800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr21:46524600-46529200	Enhancers	Primary B cells from cord blood	blood
13	chr21:46524800-46528800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr21:46524800-46528800	Weak transcription	Spleen	Spleen
15	chr21:46524800-46528800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr21:46524800-46529000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr21:46524800-46529000	Weak transcription	Gastric	stomach
18	chr21:46524800-46529000	Weak transcription	Pancreas	Pancrea
19	chr21:46524800-46529400	Enhancers	Primary B cells from peripheral blood	blood
20	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:46525000-46529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:46525000-46529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr21:46525000-46529000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:46525000-46529200	Weak transcription	Liver	Liver
26	chr21:46525000-46529200	Weak transcription	Brain Hippocampus Middle	brain
27	chr21:46525000-46533600	Weak transcription	NHEK	skin
28	chr21:46525200-46528800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:46525400-46528800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:46525800-46529000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr21:46525800-46529000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:46525800-46534000	Weak transcription	HMEC	breast
35	chr21:46526000-46528600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr21:46526000-46529200	Weak transcription	Osteobl	bone
37	chr21:46526000-46529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr21:46526200-46528600	ZNF genes & repeats	GM12878-XiMat	blood
39	chr21:46526200-46529200	Weak transcription	K562	blood
40	chr21:46526400-46528800	Weak transcription	Adipose Nuclei	Adipose
41	chr21:46526400-46528800	Weak transcription	Brain Anterior Caudate	brain
42	chr21:46526400-46528800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr21:46526400-46528800	Weak transcription	Dnd41	blood
44	chr21:46526400-46529000	Weak transcription	Fetal Lung	lung
45	chr21:46526400-46529000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr21:46526400-46529200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:46526400-46529400	Weak transcription	Brain Angular Gyrus	brain
48	chr21:46526400-46531600	Weak transcription	Hela-S3	cervix
49	chr21:46526400-46533600	Weak transcription	Fetal Stomach	stomach
50	chr21:46526400-46534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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