Variant report

Variant	rs17549841
Chromosome Location	chr2:111826389-111826390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111823035..111832129-chr2:111873853..111881438,12	MCF-7	breast:
2	chr2:111824721..111826701-chr2:111876840..111879456,2	K562	blood:
3	chr2:111826030..111828988-chr2:111875510..111877876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13013329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015135	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs13018717	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018779	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13023650	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13024581	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030892	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032068	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13034863	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118905	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2118906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118907	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34121532	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34404181	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34446964	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34791521	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34964918	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35752100	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35812219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35823383	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35875858	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35888108	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36091399	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56308728	0.84[ASN][1000 genomes]
rs71431134	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71431135	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71431136	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71431137	0.90[EUR][1000 genomes]
rs71431138	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71431140	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71431142	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71431143	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71431145	0.96[EUR][1000 genomes]
rs71431149	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71431151	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71431152	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111819400-111829000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:111824200-111829200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:111824400-111828800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:111825600-111826600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:111825800-111826400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:111825800-111826400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:111825800-111826400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:111825800-111826600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:111825800-111826600	Enhancers	Fetal Intestine Small	intestine
10	chr2:111825800-111826600	Enhancers	HMEC	breast
11	chr2:111825800-111826800	Enhancers	NHEK	skin
12	chr2:111826000-111826400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:111826000-111826400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:111826000-111826400	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:111826000-111826600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:111826000-111826600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:111826000-111826600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:111826000-111828400	Weak transcription	Esophagus	oesophagus
19	chr2:111826000-111829000	Weak transcription	Lung	lung
20	chr2:111826200-111826600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:111826200-111829200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:111826200-111830200	Weak transcription	Pancreas	Pancrea
23	chr2:111826200-111831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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