Variant report

Variant	rs162392
Chromosome Location	chr21:44941406-44941407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44940137..44942720-chr21:45027959..45031843,3	MCF-7	breast:
2	chr21:44298672..44300834-chr21:44939820..44941690,2	MCF-7	breast:
3	chr21:44940159..44942286-chr21:44998297..45000039,2	MCF-7	breast:
4	chr21:44923746..44926037-chr21:44940122..44942028,2	K562	blood:
5	chr21:44584155..44585737-chr21:44938790..44941419,2	MCF-7	breast:
6	chr21:44940715..44942547-chr21:45006167..45008707,3	MCF-7	breast:
7	chr21:44935195..44942837-chr21:45027341..45034401,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160193	Chromatin interaction
ENSG00000160194	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs162372	0.86[EUR][1000 genomes]
rs162374	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs162375	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs162376	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs162391	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162393	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162394	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs162395	0.83[ASN][1000 genomes]
rs162396	0.83[ASN][1000 genomes]
rs162398	0.83[ASN][1000 genomes]
rs162399	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162400	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162403	0.81[EUR][1000 genomes]
rs162404	0.81[ASN][1000 genomes]
rs230640	0.81[ASN][1000 genomes]
rs230642	0.81[ASN][1000 genomes]
rs230643	0.81[ASN][1000 genomes]
rs230646	0.81[ASN][1000 genomes]
rs230647	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838320	0.80[EUR][1000 genomes]
rs2838322	0.81[EUR][1000 genomes]
rs2838324	0.81[EUR][1000 genomes]
rs463738	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
5	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
10	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 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	chr21:44929200-44943400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr21:44929600-44943400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:44929800-44943600	Enhancers	HMEC	breast
4	chr21:44935400-44943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:44937200-44941800	Weak transcription	Spleen	Spleen
6	chr21:44937400-44942200	Enhancers	HepG2	liver
7	chr21:44937400-44946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:44937600-44943000	Enhancers	A549	lung
9	chr21:44937600-44943600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:44938400-44941600	Weak transcription	Lung	lung
11	chr21:44938400-44941600	Weak transcription	Right Ventricle	heart
12	chr21:44938400-44941600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr21:44938600-44942400	Weak transcription	Esophagus	oesophagus
14	chr21:44938600-44943400	Enhancers	NHEK	skin
15	chr21:44938600-44945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr21:44938600-44946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:44939000-44942000	Weak transcription	Fetal Intestine Small	intestine
18	chr21:44939200-44943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:44939800-44941800	Enhancers	Left Ventricle	heart
20	chr21:44939800-44942000	Weak transcription	Fetal Intestine Large	intestine
21	chr21:44940400-44942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr21:44940400-44945400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:44940400-44945400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:44940400-44946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:44941000-44941600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:44941000-44941800	Weak transcription	HSMMtube	muscle
27	chr21:44941000-44942200	Weak transcription	NH-A	brain
28	chr21:44941000-44942400	Weak transcription	Pancreas	Pancrea
29	chr21:44941000-44942400	Weak transcription	HSMM	muscle
30	chr21:44941000-44945400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr21:44941000-44949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:44941200-44941600	Weak transcription	Hela-S3	cervix
33	chr21:44941200-44942400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:44941200-44942400	Weak transcription	Muscle Satellite Cultured Cells	--

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