Variant report

Variant	rs2837020
Chromosome Location	chr21:40793911-40793912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr21:40793887-40795626	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40777765..40781068-chr21:40793118..40796419,3	K562	blood:
2	chr21:40791639..40794226-chr3:9438977..9441379,2	MCF-7	breast:
3	chr21:40781338..40785566-chr21:40790421..40794259,4	MCF-7	breast:
4	chr21:40792306..40794363-chr21:40795954..40797467,2	K562	blood:
5	chr21:40791860..40795258-chr21:40800068..40803211,4	K562	blood:
6	chr21:40777765..40780368-chr21:40791963..40794618,2	K562	blood:
7	chr21:40792142..40794124-chr21:40823137..40824962,2	K562	blood:
8	chr21:40792669..40796127-chr21:40816098..40819324,5	MCF-7	breast:
9	chr21:40792911..40795983-chr21:40797695..40802742,6	K562	blood:
10	chr21:40790656..40795669-chr21:40803427..40806877,6	K562	blood:
11	chr21:40792920..40797189-chr21:40804066..40808775,4	K562	blood:

No data

Variant related genes	Relation type
WRB	TF binding region
ENSG00000168137	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000157578	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11575939	0.93[ASN][1000 genomes]
rs16997618	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2063998	0.86[YRI][hapmap]
rs2065313	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2205200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs2205201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs2223028	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2246078	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.81[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2410128	0.93[ASN][1000 genomes]
rs2837009	1.00[JPT][hapmap]
rs2837015	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2837017	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap]
rs2837018	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2837019	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837021	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2837023	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837024	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837026	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837029	0.86[ASW][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837030	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837031	0.99[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837034	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2837036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2837037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2837039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2837040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2840267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4281987	0.93[ASN][1000 genomes]
rs56812456	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56866897	0.93[ASN][1000 genomes]
rs58900137	0.93[ASN][1000 genomes]
rs596289	1.00[JPT][hapmap]
rs61342945	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7276981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7277627	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73365952	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs73367928	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73367958	0.99[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73367962	0.93[ASN][1000 genomes]
rs73367974	0.93[ASN][1000 genomes]
rs73367976	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs940625	1.00[JPT][hapmap]
rs9680443	0.93[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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2837020	LCA5L	cis	Thyroid	GTEx
rs2837020	WRB	cis	Artery Tibial	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
3	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
4	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:40780600-40794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:40780600-40801800	Weak transcription	Lung	lung
10	chr21:40780800-40794200	Weak transcription	Brain Germinal Matrix	brain
11	chr21:40781200-40798600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
13	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
15	chr21:40781400-40802000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr21:40785000-40800600	Weak transcription	Gastric	stomach
17	chr21:40786600-40798000	Weak transcription	Ovary	ovary
18	chr21:40792800-40794200	Enhancers	K562	blood

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