Variant report

Variant	rs1556315
Chromosome Location	chr21:46550101-46550102
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
2	chr21:46358799..46362946-chr21:46546409..46551680,5	K562	blood:
3	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
4	chr21:46386181..46388411-chr21:46549880..46552492,2	MCF-7	breast:
5	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
6	chr21:46539600..46541971-chr21:46548774..46550309,2	K562	blood:
7	chr21:46544212..46547881-chr21:46548757..46552730,5	K562	blood:
8	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
9	chr21:46530815..46533467-chr21:46549475..46551001,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12482981	1.00[AFR][1000 genomes]
rs9974086	1.00[AMR][1000 genomes]
rs9976482	1.00[AMR][1000 genomes]
rs9981803	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv522002	chr21:46542670-46551702	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr21:46532600-46552400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr21:46532600-46570600	Weak transcription	Dnd41	blood
6	chr21:46538800-46552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:46541800-46552400	Weak transcription	Fetal Brain Male	brain
8	chr21:46542800-46551400	Weak transcription	Lung	lung
9	chr21:46544200-46558200	Weak transcription	HepG2	liver
10	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr21:46544400-46552400	Weak transcription	Thymus	Thymus
12	chr21:46545000-46554800	Enhancers	Fetal Muscle Leg	muscle
13	chr21:46545200-46550400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:46545600-46553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:46546400-46551400	Enhancers	Fetal Heart	heart
16	chr21:46546600-46554600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:46546800-46552800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr21:46546800-46555200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr21:46547200-46552400	Weak transcription	Primary T cells from cord blood	blood
20	chr21:46547600-46551200	Enhancers	Primary B cells from cord blood	blood
21	chr21:46548200-46550200	Enhancers	HUVEC	blood vessel
22	chr21:46548200-46550400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:46548200-46553400	Enhancers	Colon Smooth Muscle	Colon
24	chr21:46548200-46553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:46548400-46550400	Enhancers	HSMMtube	muscle
26	chr21:46548400-46550400	Enhancers	NHLF	lung
27	chr21:46548400-46551800	Enhancers	Rectal Smooth Muscle	rectum
28	chr21:46548600-46550400	Enhancers	Brain Hippocampus Middle	brain
29	chr21:46548600-46550400	Weak transcription	GM12878-XiMat	blood
30	chr21:46548600-46551400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:46548600-46551800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:46548600-46552200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr21:46548600-46552600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr21:46548600-46554000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr21:46548600-46554400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr21:46548800-46550400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr21:46548800-46550600	Enhancers	Stomach Mucosa	stomach
39	chr21:46548800-46551200	Weak transcription	Liver	Liver
40	chr21:46548800-46554800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:46548800-46558400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr21:46549000-46550400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr21:46549000-46551000	Enhancers	HMEC	breast
44	chr21:46549200-46550200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:46549200-46550200	Enhancers	Right Atrium	heart
46	chr21:46549200-46550400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:46549200-46550400	Enhancers	Ovary	ovary
48	chr21:46549200-46550800	Enhancers	A549	lung
49	chr21:46549400-46550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:46549400-46550200	Enhancers	Rectal Mucosa Donor 31	rectum

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