Variant report

Variant	rs17144648
Chromosome Location	chr5:118128870-118128871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118123238..118126072-chr5:118128175..118130708,2	MCF-7	breast:
2	chr5:117947053..117948753-chr5:118127871..118130563,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1156413	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1397582	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1397583	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1473231	1.00[AMR][1000 genomes]
rs1510975	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144532	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144539	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144540	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144549	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17144571	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144580	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144586	0.89[ASN][1000 genomes]
rs17144591	0.89[ASN][1000 genomes]
rs17144596	0.89[ASN][1000 genomes]
rs17144602	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17144603	0.95[ASN][1000 genomes]
rs17144604	0.95[ASN][1000 genomes]
rs17144620	0.90[ASN][1000 genomes]
rs17144623	1.00[AMR][1000 genomes]
rs17144624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17144636	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144640	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17144657	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17144664	0.90[AMR][1000 genomes]
rs17144732	1.00[AMR][1000 genomes]
rs17144738	1.00[AMR][1000 genomes]
rs17144744	1.00[AMR][1000 genomes]
rs17144795	1.00[AMR][1000 genomes]
rs17144813	1.00[AMR][1000 genomes]
rs17144818	1.00[AMR][1000 genomes]
rs6880225	0.90[AMR][1000 genomes]
rs918389	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118126600-118131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:118126800-118129600	Enhancers	Fetal Stomach	stomach
3	chr5:118127000-118129600	Enhancers	Fetal Muscle Leg	muscle
4	chr5:118127000-118130200	Enhancers	Liver	Liver
5	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118127400-118131200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:118127600-118129400	Weak transcription	Brain Germinal Matrix	brain
8	chr5:118127600-118143200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:118127800-118129000	Enhancers	Colon Smooth Muscle	Colon
10	chr5:118127800-118129200	Weak transcription	Fetal Heart	heart
11	chr5:118127800-118129400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:118127800-118129800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:118127800-118130000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:118127800-118130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:118127800-118131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:118127800-118131200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:118127800-118131400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:118127800-118131400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:118127800-118131800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:118127800-118143400	Weak transcription	Psoas Muscle	Psoas
21	chr5:118128000-118129000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:118128200-118131600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:118128400-118129600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:118128400-118131200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:118128800-118129000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:118128800-118129400	Weak transcription	Stomach Smooth Muscle	stomach

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