Variant report

Variant	rs3020134
Chromosome Location	chr8:117891070-117891071
allele	A/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	PBX3	chr8:117890919-117891620	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr8:117890978-117891664	K562	blood:	n/a	n/a
3	TCF12	chr8:117890907-117891741	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr8:117890872-117891683	SK-N-SH	brain:	n/a	chr8:117891154-117891170 chr8:117891154-117891170 chr8:117891251-117891263
5	POLR2A	chr8:117890958-117891521	Raji	blood:	n/a	n/a
6	GATA3	chr8:117890882-117891725	SK-N-SH	brain:	n/a	chr8:117891154-117891170 chr8:117891154-117891170 chr8:117891251-117891263
7	POLR2A	chr8:117890953-117891490	SK-N-SH	brain:	n/a	n/a
8	EP300	chr8:117890909-117891717	SK-N-SH	brain:	n/a	n/a
9	ARID3A	chr8:117890462-117891664	K562	blood:	n/a	n/a
10	FOSL2	chr8:117890959-117891598	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr8:117890893-117891720	SK-N-SH	brain:	n/a	n/a
12	RCOR1	chr8:117890762-117891664	K562	blood:	n/a	n/a
13	GATA1	chr8:117890996-117891733	PBDE	blood:	n/a	chr8:117891154-117891170 chr8:117891154-117891170 chr8:117891251-117891263
14	PBX3	chr8:117891006-117891617	SK-N-SH	brain:	n/a	n/a
15	JUND	chr8:117890970-117891619	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:117885681..117888687-chr8:117888823..117892545,5	K562	blood:
2	chr8:117783766..117785704-chr8:117889249..117891473,2	K562	blood:
3	chr8:117886361..117888320-chr8:117890566..117894266,3	MCF-7	breast:
4	chr8:117778445..117780504-chr8:117889619..117892569,2	K562	blood:
5	chr8:117889283..117892255-chr8:117894837..117897119,2	MCF-7	breast:
6	chr8:117888535..117891194-chr8:117894187..117898380,4	K562	blood:

Variant related genes	Relation type
RAD21	TF binding region
MIR3610	TF binding region
ENSG00000264875	Chromatin interaction
ENSG00000147677	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000147679	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10282816	0.94[ASN][1000 genomes]
rs12543129	0.94[ASN][1000 genomes]
rs12548885	0.93[ASN][1000 genomes]
rs12548895	0.94[ASN][1000 genomes]
rs1348797	1.00[ASN][1000 genomes]
rs14795	0.94[ASN][1000 genomes]
rs16888870	0.94[ASN][1000 genomes]
rs16888901	0.82[AFR][1000 genomes]
rs16889172	0.82[AFR][1000 genomes]
rs16889211	0.82[AFR][1000 genomes]
rs2241981	0.97[ASN][1000 genomes]
rs2241982	0.97[ASN][1000 genomes]
rs2921754	0.92[ASN][1000 genomes]
rs2921756	0.97[ASN][1000 genomes]
rs2921757	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2921758	0.97[ASN][1000 genomes]
rs2921770	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921771	1.00[ASN][1000 genomes]
rs2921772	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921773	1.00[ASN][1000 genomes]
rs2921774	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921775	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921778	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921780	1.00[ASN][1000 genomes]
rs2921781	1.00[ASN][1000 genomes]
rs2921782	1.00[ASN][1000 genomes]
rs2921783	1.00[ASN][1000 genomes]
rs2921784	1.00[ASN][1000 genomes]
rs2921785	1.00[ASN][1000 genomes]
rs2921786	1.00[ASN][1000 genomes]
rs2921787	1.00[ASN][1000 genomes]
rs2921788	1.00[ASN][1000 genomes]
rs2921789	0.97[ASN][1000 genomes]
rs2921790	0.97[ASN][1000 genomes]
rs2921791	0.97[ASN][1000 genomes]
rs3020109	0.94[ASN][1000 genomes]
rs3020111	1.00[ASN][1000 genomes]
rs3020118	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3020123	1.00[AFR][1000 genomes]
rs3020124	1.00[ASN][1000 genomes]
rs3020125	1.00[ASN][1000 genomes]
rs3020126	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3020128	1.00[ASN][1000 genomes]
rs3020130	1.00[ASN][1000 genomes]
rs3020131	1.00[ASN][1000 genomes]
rs3020133	0.91[ASN][1000 genomes]
rs3020135	0.97[ASN][1000 genomes]
rs3020136	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3020138	1.00[ASN][1000 genomes]
rs3020139	1.00[ASN][1000 genomes]
rs3020140	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3020142	1.00[ASN][1000 genomes]
rs3020181	1.00[ASN][1000 genomes]
rs35189908	0.84[ASN][1000 genomes]
rs56095633	0.94[ASN][1000 genomes]
rs57202151	0.94[ASN][1000 genomes]
rs73308296	0.91[ASN][1000 genomes]
rs73310218	0.82[AFR][1000 genomes]
rs73310237	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117889600-117891400	Enhancers	K562	blood
2	chr8:117889600-117891600	Enhancers	Hela-S3	cervix
3	chr8:117889800-117892200	Enhancers	GM12878-XiMat	blood
4	chr8:117890600-117891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:117890600-117892800	Enhancers	NHLF	lung
6	chr8:117891000-117891200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:117891000-117891400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:117891000-117891400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:117891000-117891400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:117891000-117891600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr8:117891000-117891600	Flanking Active TSS	Dnd41	blood
12	chr8:117891000-117892800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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