Variant report

Variant	rs17165057
Chromosome Location	chr5:126658271-126658272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17165142	1.00[AMR][1000 genomes]
rs59277332	1.00[AMR][1000 genomes]
rs61741339	1.00[AMR][1000 genomes]
rs73785544	1.00[AMR][1000 genomes]
rs73785545	1.00[AMR][1000 genomes]
rs73785557	1.00[AMR][1000 genomes]
rs73785567	1.00[AMR][1000 genomes]
rs73785569	1.00[AMR][1000 genomes]
rs73785571	1.00[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126648000-126674800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126655200-126658400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr5:126655400-126658400	Enhancers	Brain Hippocampus Middle	brain
4	chr5:126655600-126659600	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:126655800-126658400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:126655800-126658400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:126655800-126658400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:126655800-126659200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:126656600-126660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:126656600-126665600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:126656600-126673400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:126656800-126659000	Weak transcription	Brain Angular Gyrus	brain
13	chr5:126656800-126660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:126656800-126667600	Weak transcription	HSMMtube	muscle
15	chr5:126657200-126659000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:126657600-126659000	Weak transcription	GM12878-XiMat	blood
17	chr5:126657800-126658400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:126657800-126658400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:126657800-126658400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:126658000-126658400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:126658000-126661200	Enhancers	Brain Anterior Caudate	brain
22	chr5:126658200-126659000	Weak transcription	Brain Substantia Nigra	brain
23	chr5:126658200-126659000	Weak transcription	Pancreas	Pancrea
24	chr5:126658200-126660200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:126658200-126660200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:126658200-126660600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:126658200-126661200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:126658200-126661800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:126658200-126661800	Weak transcription	Brain Inferior Temporal Lobe	brain

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