Variant report

Variant	rs17165082
Chromosome Location	chr5:126636782-126636783
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	chr5:126631925..126634721-chr5:126635214..126638785,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10519929	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10519930	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17165043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165102	1.00[ASN][1000 genomes]
rs17165103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17165105	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17604615	0.87[CHD][hapmap]
rs17604889	0.87[CHD][hapmap]
rs17673224	0.84[ASN][1000 genomes]
rs17673685	0.87[CHD][hapmap]
rs17763722	0.87[CHD][hapmap]
rs17839697	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2032833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2194080	0.86[YRI][hapmap];0.91[AFR][1000 genomes]
rs2898042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812054	0.85[CHD][hapmap]
rs56084567	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169866	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57623356	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595768	0.87[CHD][hapmap]
rs73785574	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73785576	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73785580	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7702573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126629600-126638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:126630400-126639000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126631000-126638800	Enhancers	Brain Angular Gyrus	brain
4	chr5:126632800-126637000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:126633400-126637200	Weak transcription	HSMM	muscle
6	chr5:126633600-126637200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:126633800-126637000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:126633800-126637400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:126634200-126641200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:126634400-126637400	Enhancers	Brain Hippocampus Middle	brain
11	chr5:126634400-126641000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:126634400-126641800	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:126634400-126648400	Enhancers	Brain Substantia Nigra	brain
14	chr5:126634800-126641000	Weak transcription	Brain Germinal Matrix	brain
15	chr5:126634800-126644000	Enhancers	Brain Anterior Caudate	brain
16	chr5:126635000-126637400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:126635600-126641000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:126635600-126642200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:126635600-126642200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:126636000-126638000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:126636000-126641000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:126636000-126641400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:126636000-126642200	Weak transcription	HSMMtube	muscle
24	chr5:126636200-126641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:126636200-126650600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:126636600-126637200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:126636600-126639200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:126636600-126640600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:126636600-126641200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:126636600-126641200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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