Variant report

Variant	rs8122738
Chromosome Location	chr20:1245510-1245511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr20:1245368-1246278	K562	blood:	n/a	n/a
2	TBL1XR1	chr20:1245384-1246965	K562	blood:	n/a	n/a
3	EP300	chr20:1245362-1245569	K562	blood:	n/a	n/a

Variant related genes	Relation type
SNPH	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10485822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17717241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17779421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813073	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814030	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814031	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040984	0.89[ASN][1000 genomes]
rs60609218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7265362	0.89[ASN][1000 genomes]
rs7273889	0.89[ASN][1000 genomes]
rs73890804	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73890806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73890814	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv912586	chr20:1195784-1248286	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv518957	chr20:1195784-1250463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv912587	chr20:1205886-1248286	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1816838	chr20:1230185-1247015	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1243000-1245600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr20:1243400-1246200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr20:1243400-1246400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr20:1243600-1245800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr20:1243800-1246000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr20:1243800-1246000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr20:1244000-1245800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr20:1244200-1246200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:1244400-1245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr20:1244400-1245800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr20:1244400-1246000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr20:1244400-1246200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr20:1244400-1246200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr20:1244600-1245600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:1244600-1246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr20:1244600-1246400	Weak transcription	Right Atrium	heart
17	chr20:1244600-1246600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr20:1244800-1246000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:1245000-1246200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:1245000-1246200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr20:1245000-1246600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:1245000-1246600	Weak transcription	Placenta	Placenta
23	chr20:1245200-1246200	Bivalent Enhancer	Primary T cells from cord blood	blood
24	chr20:1245400-1246200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr20:1245400-1246800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr20:1245400-1246800	Flanking Active TSS	K562	blood

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