Variant report

Variant	rs12482238
Chromosome Location	chr21:16595758-16595759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16434791..16438927-chr21:16592548..16596753,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6517304	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9647071	0.82[CEU][hapmap]

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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv587059	chr21:16588414-16600408	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16591600-16597400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr21:16592000-16596400	Enhancers	A549	lung
3	chr21:16592200-16596000	Enhancers	HepG2	liver
4	chr21:16592200-16597800	Enhancers	Hela-S3	cervix
5	chr21:16592400-16596000	Enhancers	Liver	Liver
6	chr21:16592400-16597800	Enhancers	NHEK	skin
7	chr21:16592600-16595800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:16592600-16596200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:16592800-16597400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:16593000-16597600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:16593400-16597400	Enhancers	NHLF	lung
12	chr21:16593600-16597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:16593800-16597200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:16593800-16598000	Enhancers	HMEC	breast
15	chr21:16594000-16597400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:16594200-16595800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr21:16594200-16597400	Enhancers	Osteobl	bone
18	chr21:16594400-16597400	Enhancers	NHDF-Ad	bronchial
19	chr21:16594400-16597800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:16594600-16597200	Weak transcription	Esophagus	oesophagus
21	chr21:16594800-16595800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr21:16594800-16595800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr21:16594800-16595800	Weak transcription	Psoas Muscle	Psoas
24	chr21:16594800-16595800	Weak transcription	Right Ventricle	heart
25	chr21:16594800-16596000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr21:16595000-16595800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:16595000-16595800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr21:16595000-16596000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr21:16595000-16596400	Weak transcription	NH-A	brain
30	chr21:16595000-16596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:16595000-16597000	Weak transcription	HSMM	muscle
32	chr21:16595200-16596400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:16595400-16595800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr21:16595400-16595800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr21:16595600-16596000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr21:16595600-16596000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:16595600-16596600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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