Variant report

Variant	rs13210634
Chromosome Location	chr6:27646492-27646493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27632657..27637879-chr6:27644957..27648332,5	K562	blood:
2	chr6:27634605..27637879-chr6:27644998..27648332,4	K562	blood:
3	chr6:27638628..27643322-chr6:27645901..27648389,5	K562	blood:
4	chr6:27644939..27650269-chr6:27651814..27657274,7	K562	blood:
5	chr6:27646424..27648439-chr6:27863200..27865949,2	K562	blood:

Variant related genes	Relation type
ENSG00000238610	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10484399	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs13192965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13193480	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13193542	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13194781	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13195636	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13195728	0.87[EUR][1000 genomes]
rs13199772	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13199906	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13202291	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13202295	0.94[EUR][1000 genomes]
rs13202775	0.92[EUR][1000 genomes]
rs13209332	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs13212318	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13212651	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13215275	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13217620	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs175597	0.91[CEU][hapmap]
rs17693963	1.00[CEU][hapmap]
rs17695758	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17749927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17750747	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17751184	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17763089	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs200481	0.91[CEU][hapmap]
rs200482	0.91[CEU][hapmap]
rs200483	0.91[CEU][hapmap]
rs200484	0.91[CEU][hapmap]
rs200485	0.91[CEU][hapmap]
rs200490	0.91[CEU][hapmap]
rs200501	0.91[CEU][hapmap]
rs200948	0.91[CEU][hapmap]
rs200949	0.91[CEU][hapmap]
rs200953	0.91[CEU][hapmap]
rs200954	0.91[CEU][hapmap]
rs200981	0.89[CEU][hapmap]
rs200989	0.91[CEU][hapmap]
rs200990	0.91[CEU][hapmap]
rs200995	0.91[CEU][hapmap]
rs201002	0.91[CEU][hapmap]
rs2747054	0.91[CEU][hapmap]
rs34064842	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34105070	0.92[EUR][1000 genomes]
rs34194357	0.83[EUR][1000 genomes]
rs34409918	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34432857	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34573979	0.81[EUR][1000 genomes]
rs34706883	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs34718920	0.87[EUR][1000 genomes]
rs34965299	0.85[EUR][1000 genomes]
rs35037868	0.94[EUR][1000 genomes]
rs35501037	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35715914	1.00[EUR][1000 genomes]
rs35819751	0.83[EUR][1000 genomes]
rs35848276	0.85[EUR][1000 genomes]
rs36116761	0.83[EUR][1000 genomes]
rs370155	0.91[CEU][hapmap]
rs401763	0.91[CEU][hapmap]
rs425335	1.00[CEU][hapmap]
rs45509595	0.83[EUR][1000 genomes]
rs56405707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58616630	0.81[EUR][1000 genomes]
rs66785117	0.85[EUR][1000 genomes]
rs67101035	0.87[EUR][1000 genomes]
rs67652222	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs71559038	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71559050	0.87[EUR][1000 genomes]
rs72845046	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72845070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847313	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7749305	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13210634	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs13210634	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs13210634	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27640800-27647400	Weak transcription	GM12878-XiMat	blood
2	chr6:27645600-27647000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr6:27645800-27646600	Enhancers	HepG2	liver
4	chr6:27646000-27649000	Weak transcription	A549	lung
5	chr6:27646200-27646600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:27646400-27647000	Bivalent Enhancer	Fetal Intestine Small	intestine

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