Variant report

Variant	rs17684525
Chromosome Location	chr5:126677978-126677979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126669402..126672164-chr5:126676227..126678289,2	K562	blood:
2	chr5:126676905..126679751-chr5:126715613..126717361,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10519949	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652963	1.00[CEU][hapmap]
rs12652982	1.00[CEU][hapmap]
rs12654455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12659381	1.00[CEU][hapmap]
rs12659424	1.00[CEU][hapmap]
rs17165013	1.00[TSI][hapmap]
rs17165018	1.00[TSI][hapmap]
rs17684438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17684740	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17762857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17762863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17839701	1.00[CEU][hapmap]
rs1990954	1.00[MEX][hapmap]
rs2194080	0.90[CHB][hapmap]
rs3812058	1.00[CEU][hapmap]
rs3812059	1.00[CEU][hapmap]
rs6862045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs73344962	1.00[EUR][1000 genomes]
rs73344963	1.00[EUR][1000 genomes]
rs73344964	1.00[EUR][1000 genomes]
rs73344966	1.00[EUR][1000 genomes]
rs7728190	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
2	chr5:126666200-126679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:126668000-126687200	Weak transcription	HSMM	muscle
5	chr5:126673800-126681800	Weak transcription	Fetal Brain Female	brain
6	chr5:126674200-126678000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:126674200-126678200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:126674200-126688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:126674800-126679800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr5:126675000-126678000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:126675200-126678400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126675400-126678000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:126675600-126678000	Weak transcription	Brain Angular Gyrus	brain
14	chr5:126675600-126678200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:126675600-126679000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:126675800-126678000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:126675800-126678000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:126675800-126678000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:126675800-126687400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:126676600-126678200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:126676800-126678000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:126677000-126678000	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:126677000-126678200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:126677000-126678800	Weak transcription	HSMMtube	muscle
25	chr5:126677000-126690200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:126677200-126678000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:126677200-126678000	Weak transcription	Brain Substantia Nigra	brain
28	chr5:126677400-126678000	Weak transcription	Brain Anterior Caudate	brain
29	chr5:126677400-126680800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:126677600-126678000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:126677800-126678600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:126677800-126680000	Enhancers	Brain Hippocampus Middle	brain

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