Variant report

Variant	rs1109802
Chromosome Location	chr7:26126595-26126596
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:
2	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
3	chr7:26120211..26123074-chr7:26126513..26128042,2	MCF-7	breast:
4	chr7:26122863..26125751-chr7:26125996..26128926,3	K562	blood:
5	chr7:26122995..26125751-chr7:26126126..26128926,3	K562	blood:
6	chr7:26126519..26129493-chr7:26238695..26242874,4	K562	blood:
7	chr7:26126033..26128739-chr7:26129365..26131958,3	MCF-7	breast:
8	chr7:26126305..26129045-chr7:26235519..26238243,2	MCF-7	breast:
9	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
10	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
11	chr7:26126507..26129554-chr7:26238695..26242281,4	K562	blood:
12	chr7:26125058..26127925-chr7:26238815..26242707,3	MCF-7	breast:

No data

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

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1109803	1.00[CEU][hapmap]
rs12535874	0.91[GIH][hapmap]
rs17153217	0.91[GIH][hapmap]
rs2391224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59311302	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61389756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945071	0.91[GIH][hapmap]
rs6956999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73683222	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73683223	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73683225	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73683232	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73683235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73683236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777679	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs882612	1.00[CEU][hapmap]
rs9639527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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
rs1109802	NFE2L3	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26121600-26130200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:26121600-26130200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:26122000-26126600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:26122000-26127400	Weak transcription	HepG2	liver
6	chr7:26122200-26130600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:26122400-26128600	Enhancers	NHEK	skin
8	chr7:26122600-26129000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:26123200-26130200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:26123200-26130400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:26123400-26130200	Weak transcription	Fetal Intestine Large	intestine
12	chr7:26124400-26130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:26124400-26130400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:26124600-26126600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:26125000-26128600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:26125200-26129000	Enhancers	Placenta	Placenta
17	chr7:26125400-26128600	Enhancers	HMEC	breast
18	chr7:26125800-26126600	Weak transcription	Fetal Thymus	thymus
19	chr7:26125800-26130400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:26126000-26130600	Weak transcription	Stomach Mucosa	stomach
21	chr7:26126000-26135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:26126400-26128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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