Variant report

Variant	rs595046
Chromosome Location	chr21:44802017-44802018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44792472..44794842-chr21:44800038..44802202,2	K562	blood:
2	chr21:44794538..44796207-chr21:44800905..44803072,2	MCF-7	breast:
3	chr21:44774210..44776288-chr21:44801380..44803823,2	MCF-7	breast:
4	chr21:44798976..44802444-chr21:44845775..44848745,3	K562	blood:
5	chr21:44801294..44803832-chr21:44814842..44816860,2	MCF-7	breast:
6	chr21:44801690..44804651-chr21:44845741..44847984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1034360	0.95[ASN][1000 genomes]
rs34217534	0.92[ASN][1000 genomes]
rs541476	0.89[ASN][1000 genomes]
rs570905	0.93[ASN][1000 genomes]
rs598771	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs607398	0.86[EUR][1000 genomes]
rs653004	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671760	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs672226	0.83[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs857543	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
16	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv913846	chr21:44792003-44824854	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs595046	ERG	cis	cerebellum	SCAN
rs595046	WRB	cis	cerebellum	SCAN
rs595046	C21orf29	cis	cerebellum	SCAN
rs595046	NCRNA00257	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790400-44802600	Weak transcription	Pancreas	Pancrea
2	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
3	chr21:44790800-44802400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr21:44791600-44802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:44791600-44802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr21:44795400-44814200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:44798400-44805600	Enhancers	Primary B cells from peripheral blood	blood
8	chr21:44799000-44804400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr21:44799200-44805000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:44799600-44804000	Enhancers	Fetal Muscle Leg	muscle
11	chr21:44800000-44802400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:44800200-44802600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:44800200-44808400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:44800400-44802600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:44800400-44803000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:44800400-44814200	Weak transcription	Hela-S3	cervix
17	chr21:44800600-44802800	Weak transcription	Colonic Mucosa	Colon
18	chr21:44800600-44804600	Enhancers	Primary B cells from cord blood	blood
19	chr21:44800600-44805000	Weak transcription	Fetal Brain Female	brain
20	chr21:44800800-44804600	Enhancers	Primary hematopoietic stem cells	blood
21	chr21:44801200-44802400	Enhancers	Spleen	Spleen
22	chr21:44801200-44802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:44801400-44803000	Enhancers	Brain Germinal Matrix	brain
24	chr21:44801400-44803200	Enhancers	GM12878-XiMat	blood
25	chr21:44801600-44802600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:44801600-44802600	Weak transcription	Fetal Thymus	thymus
27	chr21:44801800-44802400	Weak transcription	Brain Angular Gyrus	brain
28	chr21:44801800-44802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:44801800-44802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:44801800-44803400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr21:44801800-44803400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:44802000-44802200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr21:44802000-44802200	Enhancers	Right Ventricle	heart
34	chr21:44802000-44802200	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr21:44802000-44803800	Enhancers	Fetal Lung	lung
36	chr21:44802000-44804000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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