Variant report

Variant	rs17144813
Chromosome Location	chr5:118251435-118251436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118240942..118242563-chr5:118250072..118251996,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1156413	1.00[AMR][1000 genomes]
rs12108713	0.92[ASN][1000 genomes]
rs12109512	0.92[ASN][1000 genomes]
rs12109542	0.92[ASN][1000 genomes]
rs12109733	0.92[ASN][1000 genomes]
rs12109968	0.92[ASN][1000 genomes]
rs12109982	0.92[ASN][1000 genomes]
rs12109987	0.92[ASN][1000 genomes]
rs12109992	0.92[ASN][1000 genomes]
rs1366457	0.92[ASN][1000 genomes]
rs1397582	1.00[AMR][1000 genomes]
rs1397583	1.00[AMR][1000 genomes]
rs1473231	1.00[AMR][1000 genomes]
rs1510969	0.92[ASN][1000 genomes]
rs1510975	1.00[AMR][1000 genomes]
rs17144532	1.00[AMR][1000 genomes]
rs17144539	1.00[AMR][1000 genomes]
rs17144540	1.00[AMR][1000 genomes]
rs17144549	1.00[AMR][1000 genomes]
rs17144571	0.81[AMR][1000 genomes]
rs17144580	1.00[AMR][1000 genomes]
rs17144602	0.90[AMR][1000 genomes]
rs17144623	1.00[AMR][1000 genomes]
rs17144624	1.00[AMR][1000 genomes]
rs17144636	1.00[AMR][1000 genomes]
rs17144640	1.00[AMR][1000 genomes]
rs17144648	1.00[AMR][1000 genomes]
rs17144657	1.00[AMR][1000 genomes]
rs17144664	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17144680	0.92[ASN][1000 genomes]
rs17144684	0.92[ASN][1000 genomes]
rs17144687	0.92[ASN][1000 genomes]
rs17144694	0.92[ASN][1000 genomes]
rs17144711	0.92[ASN][1000 genomes]
rs17144732	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17144738	1.00[AMR][1000 genomes]
rs17144744	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17144795	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17144818	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17164564	0.92[ASN][1000 genomes]
rs34164145	0.92[ASN][1000 genomes]
rs6880225	0.90[AMR][1000 genomes]
rs918389	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv823191	chr5:118250776-118254318	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118227400-118270600	Weak transcription	Ovary	ovary
3	chr5:118233400-118259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
5	chr5:118239400-118257000	Weak transcription	Fetal Lung	lung
6	chr5:118241800-118254400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:118243600-118265000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:118244000-118279600	Weak transcription	Liver	Liver
9	chr5:118244000-118287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:118245000-118260400	Weak transcription	Brain Anterior Caudate	brain
11	chr5:118245000-118272200	Weak transcription	Aorta	Aorta
12	chr5:118245200-118254200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:118245600-118262200	Weak transcription	Primary T cells from cord blood	blood
14	chr5:118246600-118266800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:118250000-118261600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:118250400-118257600	Weak transcription	Fetal Kidney	kidney
17	chr5:118250400-118289400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:118250600-118254800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:118251000-118253600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:118251200-118254800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:118251400-118251800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:118251400-118252000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118251400-118252000	Strong transcription	Left Ventricle	heart

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