Variant report

Variant	rs17165105
Chromosome Location	chr5:126629761-126629762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109330	0.85[EUR][1000 genomes]
rs17165043	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17165060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17165082	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17165102	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165119	1.00[CEU][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs17604615	0.85[CHD][hapmap]
rs17604889	0.85[CHD][hapmap]
rs17673685	0.85[CHD][hapmap]
rs17763722	0.85[CHD][hapmap]
rs17839697	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2032833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2898042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3812054	1.00[CHD][hapmap]
rs56084567	0.89[ASN][1000 genomes]
rs56169866	0.89[ASN][1000 genomes]
rs57623356	0.89[ASN][1000 genomes]
rs6595768	0.85[CHD][hapmap]
rs73785574	0.89[ASN][1000 genomes]
rs73785576	0.89[ASN][1000 genomes]
rs7702573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126627200-126631600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:126627400-126631200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:126627400-126634400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:126627600-126635000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:126627800-126630200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:126627800-126630400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:126628000-126629800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:126628000-126629800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:126628000-126630000	Active TSS	Fetal Muscle Leg	muscle
10	chr5:126628200-126629800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:126628200-126633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:126628400-126629800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:126628400-126630600	Weak transcription	HSMM	muscle
14	chr5:126628600-126629800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:126628600-126630200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:126628600-126633800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:126629000-126629800	Enhancers	HSMMtube	muscle
18	chr5:126629000-126634000	Enhancers	Brain Substantia Nigra	brain
19	chr5:126629200-126630000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr5:126629400-126629800	Enhancers	Brain Hippocampus Middle	brain
21	chr5:126629400-126630200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:126629400-126630400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:126629400-126630400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr5:126629400-126634000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:126629600-126629800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr5:126629600-126629800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr5:126629600-126629800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:126629600-126629800	Enhancers	Fetal Brain Male	brain
29	chr5:126629600-126630200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:126629600-126630200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:126629600-126630200	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:126629600-126633600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:126629600-126633800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:126629600-126638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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