Variant report

Variant	rs66534834
Chromosome Location	chr1:212728785-212728786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:212728656-212729215	U2OS	brain:	n/a	n/a
2	KAP1	chr1:212728599-212728922	U2OS	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212727002..212729169-chr1:212794991..212796568,2	K562	blood:
2	chr1:212719347..212721622-chr1:212726171..212729045,2	K562	blood:
3	chr1:212457639..212459855-chr1:212727032..212729860,2	K562	blood:
4	chr1:212719262..212723059-chr1:212724838..212729045,5	K562	blood:
5	chr1:212651265..212654246-chr1:212726991..212729981,2	K562	blood:
6	chr1:212722240..212729141-chr1:212779289..212785767,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260805	TF binding region
ENSG00000066027	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10157307	1.00[ASN][1000 genomes]
rs10158476	1.00[ASN][1000 genomes]
rs10158543	1.00[ASN][1000 genomes]
rs11119914	1.00[ASN][1000 genomes]
rs11119915	1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs11811628	1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12073991	1.00[ASN][1000 genomes]
rs12738431	1.00[ASN][1000 genomes]
rs12739468	1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17019384	1.00[ASN][1000 genomes]
rs28526731	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34004542	1.00[ASN][1000 genomes]
rs34799814	1.00[ASN][1000 genomes]
rs35432717	1.00[ASN][1000 genomes]
rs36061296	1.00[ASN][1000 genomes]
rs41314256	1.00[ASN][1000 genomes]
rs56862824	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57377970	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57847431	1.00[ASN][1000 genomes]
rs58338531	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58752775	1.00[ASN][1000 genomes]
rs58876418	1.00[ASN][1000 genomes]
rs59261419	1.00[ASN][1000 genomes]
rs59344104	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59408650	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60399349	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60521851	1.00[ASN][1000 genomes]
rs61450816	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61526449	1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs67410757	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67529467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67770348	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67947916	1.00[ASN][1000 genomes]
rs68028120	1.00[ASN][1000 genomes]
rs68047079	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	1.00[ASN][1000 genomes]
rs72754304	1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754375	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754384	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756307	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756328	1.00[ASN][1000 genomes]
rs72756330	1.00[ASN][1000 genomes]
rs72756331	1.00[ASN][1000 genomes]
rs72756332	1.00[ASN][1000 genomes]
rs72756334	1.00[ASN][1000 genomes]
rs72756335	1.00[ASN][1000 genomes]
rs72756337	1.00[ASN][1000 genomes]
rs72756339	1.00[ASN][1000 genomes]
rs72756341	1.00[ASN][1000 genomes]
rs72756342	1.00[ASN][1000 genomes]
rs72756347	1.00[ASN][1000 genomes]
rs72756348	1.00[ASN][1000 genomes]
rs73073999	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73075861	0.80[AFR][1000 genomes]
rs73075864	0.80[AFR][1000 genomes]
rs73088569	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138382	1.00[ASN][1000 genomes]
rs7512515	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212718600-212731400	Weak transcription	Right Atrium	heart
2	chr1:212723600-212730800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:212727400-212731200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:212727600-212728800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:212728400-212731400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:212728600-212728800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr1:212728600-212729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:212728600-212731400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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