Variant report

Variant	rs73344962
Chromosome Location	chr5:126688726-126688727
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	chr5:126683909..126685782-chr5:126687587..126689671,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519949	1.00[EUR][1000 genomes]
rs12654455	1.00[EUR][1000 genomes]
rs17165037	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17165038	0.95[AFR][1000 genomes]
rs17684438	1.00[EUR][1000 genomes]
rs17684525	1.00[EUR][1000 genomes]
rs17762857	1.00[EUR][1000 genomes]
rs17762863	1.00[EUR][1000 genomes]
rs73344963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73344966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
2	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126674200-126688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:126677000-126690200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:126678800-126690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:126679200-126690000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:126679200-126694000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:126681400-126693400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:126681800-126693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:126681800-126693600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:126682200-126689000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:126685600-126689000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:126687600-126690600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:126687800-126689000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:126687800-126689600	Weak transcription	HSMM	muscle
16	chr5:126687800-126693800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:126688000-126689000	Enhancers	Brain Hippocampus Middle	brain
18	chr5:126688200-126691000	Enhancers	Fetal Muscle Trunk	muscle
19	chr5:126688200-126691400	Enhancers	Brain Substantia Nigra	brain
20	chr5:126688200-126692200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:126688400-126690800	Enhancers	Brain Anterior Caudate	brain
22	chr5:126688400-126691400	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:126688400-126692400	Enhancers	Fetal Muscle Leg	muscle
24	chr5:126688400-126692600	Enhancers	Brain Angular Gyrus	brain
25	chr5:126688400-126692600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:126688600-126689400	Strong transcription	HSMMtube	muscle

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