Variant report

Variant	rs219787
Chromosome Location	chr21:37829508-37829509
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	chr21:37826859..37829532-chr21:37843976..37845773,2	MCF-7	breast:
2	chr21:37800851..37803310-chr21:37829085..37832039,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230479	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16994103	1.00[ASN][1000 genomes]
rs2101437	1.00[ASN][1000 genomes]
rs219767	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219768	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219769	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219770	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219771	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219772	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219773	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219774	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219775	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219776	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219777	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219778	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219779	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219781	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219782	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219783	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219784	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219790	0.93[EUR][1000 genomes]
rs219791	0.91[EUR][1000 genomes]
rs2835343	1.00[ASN][1000 genomes]
rs2835363	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35692359	1.00[ASN][1000 genomes]
rs55801805	1.00[ASN][1000 genomes]
rs73902527	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv33286	chr21:37827016-37861556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
3	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:37819400-37831400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:37824800-37836800	Weak transcription	Right Atrium	heart
6	chr21:37825800-37833600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:37827000-37831800	Weak transcription	Spleen	Spleen
8	chr21:37827200-37834000	Weak transcription	A549	lung
9	chr21:37827200-37837200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:37827400-37831400	Weak transcription	Fetal Muscle Leg	muscle
11	chr21:37827400-37834000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:37827400-37836400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:37827400-37836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:37827600-37831800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:37827600-37831800	Weak transcription	Fetal Lung	lung
16	chr21:37827600-37832000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:37827600-37834200	Weak transcription	Fetal Kidney	kidney
18	chr21:37827600-37834600	Weak transcription	Brain Anterior Caudate	brain
19	chr21:37827800-37831800	Weak transcription	Lung	lung
20	chr21:37827800-37834400	Weak transcription	Ovary	ovary
21	chr21:37828000-37831400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:37828200-37830200	Enhancers	HUVEC	blood vessel
23	chr21:37828600-37829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:37828600-37831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:37828800-37829600	Enhancers	Osteobl	bone
26	chr21:37828800-37829800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:37828800-37829800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr21:37829000-37829600	Enhancers	NH-A	brain
29	chr21:37829200-37829600	Enhancers	HSMM	muscle
30	chr21:37829400-37829600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:37829400-37829600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:37829400-37829600	Enhancers	Adipose Nuclei	Adipose
33	chr21:37829400-37829600	Enhancers	Pancreas	Pancrea
34	chr21:37829400-37833600	Weak transcription	Esophagus	oesophagus

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