Variant report

Variant	rs17153193
Chromosome Location	chr7:26122034-26122035
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26121331..26123679-chr7:26220972..26223224,2	MCF-7	breast:
2	chr7:26120022..26122895-chr7:26235605..26238728,3	MCF-7	breast:
3	chr7:26118648..26123140-chr7:26237417..26242169,5	K562	blood:
4	chr7:26114537..26124611-chr7:26235125..26244089,23	MCF-7	breast:
5	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
6	chr7:26119926..26122266-chr7:26227984..26229588,2	MCF-7	breast:
7	chr7:26120211..26123074-chr7:26126513..26128042,2	MCF-7	breast:
8	chr7:26121372..26122991-chr7:26241151..26242996,2	MCF-7	breast:
9	chr7:26120586..26123734-chr7:26238945..26240638,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122565	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11971308	1.00[CEU][hapmap]
rs11972057	1.00[CEU][hapmap]
rs11976883	1.00[CEU][hapmap]
rs11977822	1.00[CEU][hapmap]
rs12531642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535642	0.82[ASN][1000 genomes]
rs12535874	0.82[CEU][hapmap]
rs17153158	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs17153170	0.88[ASN][1000 genomes]
rs17153176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17153183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17153217	0.82[CEU][hapmap]
rs17322566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17322608	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs56280037	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59736251	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59896725	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6945071	0.82[CEU][hapmap]
rs7793815	1.00[CEU][hapmap]
rs7793849	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1024345	chr7:26063806-26132278	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1015432	chr7:26069740-26126619	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1024986	chr7:26079829-26128758	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1026480	chr7:26090236-26128758	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1031125	chr7:26090236-26145401	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1032005	chr7:26096504-26127670	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1024779	chr7:26111703-26162200	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1028727	chr7:26111703-26193309	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1023899	chr7:26113797-26165986	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
16	nsv508449	chr7:26117275-26161137	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv5671	chr7:26118646-26155496	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17153193	NFE2L3	cis	multi-tissue	Pritchard

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119000-26122200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:26119000-26122600	Weak transcription	HMEC	breast
3	chr7:26119200-26124000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:26119600-26122800	Weak transcription	Fetal Kidney	kidney
6	chr7:26120000-26123200	Enhancers	Fetal Intestine Small	intestine
7	chr7:26120000-26123400	Enhancers	Fetal Intestine Large	intestine
8	chr7:26121000-26122200	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:26121200-26122200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:26121200-26122200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:26121200-26123400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:26121600-26122400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:26121600-26122800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:26121600-26122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:26121600-26123800	Weak transcription	Fetal Thymus	thymus
16	chr7:26121600-26130200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:26121600-26130200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:26121800-26122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:26121800-26122800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:26121800-26123000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:26121800-26124000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:26121800-26124600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:26121800-26125800	Weak transcription	Stomach Mucosa	stomach
24	chr7:26122000-26123000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:26122000-26123000	Weak transcription	Placenta	Placenta
26	chr7:26122000-26126600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:26122000-26127400	Weak transcription	HepG2	liver

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