Variant report

Variant	rs17839697
Chromosome Location	chr5:126676528-126676529
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	chr5:126669402..126672164-chr5:126676227..126678289,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519929	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10519930	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17165035	0.85[CHD][hapmap]
rs17165043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165082	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]
rs17165102	0.89[ASN][1000 genomes]
rs17165103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17165105	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17604615	1.00[CHD][hapmap]
rs17604889	1.00[CHD][hapmap]
rs17673224	0.95[ASN][1000 genomes]
rs17673685	1.00[CHD][hapmap]
rs17763722	1.00[CHD][hapmap]
rs2032833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3812054	1.00[CHD][hapmap]
rs56084567	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56169866	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57623356	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6595768	1.00[CHD][hapmap]
rs73785574	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73785576	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73785580	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7702573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	chr5:126674800-126677000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:126674800-126677000	Strong transcription	Fetal Muscle Leg	muscle
11	chr5:126674800-126677000	Strong transcription	HSMMtube	muscle
12	chr5:126674800-126679800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:126675000-126678000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:126675200-126677000	Strong transcription	Brain Substantia Nigra	brain
15	chr5:126675200-126678400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:126675400-126678000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:126675600-126677000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:126675600-126677000	Strong transcription	Brain Hippocampus Middle	brain
19	chr5:126675600-126678000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:126675600-126678200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:126675600-126679000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:126675800-126677800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:126675800-126678000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:126675800-126678000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:126675800-126678000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:126675800-126687400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:126676000-126676600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:126676000-126677400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:126676200-126676800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:126676200-126677200	Genic enhancers	H1 Cell Line	embryonic stem cell
31	chr5:126676200-126677400	Strong transcription	Brain Anterior Caudate	brain
32	chr5:126676200-126677600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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