Variant report

Variant	rs4248138
Chromosome Location	chr6:29673929-29673930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:29673244..29674572-chr6:29802335..29803091,3	MCF-7	breast:
2	chr6:29673528..29674438-chr6:29802360..29803231,5	K562	blood:
3	chr6:29673185..29674019-chr6:29806166..29806939,2	MCF-7	breast:
4	chr6:29673586..29674252-chr6:29706679..29707289,2	MCF-7	breast:
5	chr6:29673438..29674041-chr6:30098583..30099284,2	MCF-7	breast:
6	chr6:29673901..29676614-chr6:29690934..29692528,2	MCF-7	breast:
7	chr6:29673331..29674077-chr6:29980846..29981765,3	K562	blood:
8	chr6:29609140..29610048-chr6:29673773..29674677,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204642	Chromatin interaction
ENSG00000225864	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1362125	0.84[EUR][1000 genomes]
rs2394661	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523404	0.83[EUR][1000 genomes]
rs2523405	0.83[EUR][1000 genomes]
rs2735059	0.83[EUR][1000 genomes]
rs2735060	0.83[EUR][1000 genomes]
rs2735062	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4248137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762253	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7767671	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9258119	0.84[ASN][1000 genomes]

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	nsv883530	chr6:29645038-29677641	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv970675	chr6:29657036-29692268	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4248138	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs4248138	HLA.A29.1	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29664000-29690600	Weak transcription	Right Atrium	heart
2	chr6:29670200-29678200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:29670800-29678200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:29673200-29675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:29673200-29676200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:29673200-29676400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:29673200-29677000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:29673400-29676000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:29673400-29676200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr6:29673400-29676200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:29673400-29676400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:29673400-29678600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:29673600-29674000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:29673600-29674800	Enhancers	Liver	Liver
15	chr6:29673600-29675400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr6:29673600-29676000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:29673600-29676200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:29673600-29676400	Enhancers	Primary T cells from cord blood	blood
19	chr6:29673600-29676800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:29673800-29674000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:29673800-29674000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:29673800-29674000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr6:29673800-29674000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:29673800-29674400	Enhancers	HepG2	liver
25	chr6:29673800-29674800	Enhancers	H9 Cell Line	embryonic stem cell

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