Variant report

Variant	rs73783787
Chromosome Location	chr5:126735668-126735669
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	chr5:126732573..126736586-chr5:126737004..126738980,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2108889	1.00[AMR][1000 genomes]
rs55857193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57304460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58622488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59168209	1.00[AMR][1000 genomes]
rs60007347	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60963225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61170684	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6595772	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885300	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783767	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783792	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783793	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783799	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783801	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783802	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786110	1.00[AMR][1000 genomes]
rs7702677	1.00[AMR][1000 genomes]
rs7703677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv526333	chr5:126732427-126746277	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126710200-126741200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126720000-126742000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:126722800-126736000	Weak transcription	HSMM	muscle
5	chr5:126731800-126741800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:126731800-126742000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:126732000-126741200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:126732400-126741600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:126732600-126741800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:126732800-126737400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:126733200-126736800	Weak transcription	Fetal Brain Female	brain
12	chr5:126733200-126739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:126733600-126736600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:126734400-126735800	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:126734400-126736000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:126734400-126736200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:126734600-126736800	Weak transcription	Brain Angular Gyrus	brain
18	chr5:126734800-126735800	Strong transcription	Brain Anterior Caudate	brain
19	chr5:126734800-126736600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:126734800-126753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:126735000-126736600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:126735000-126736800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:126735000-126736800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:126735000-126737200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:126735200-126736200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:126735200-126736600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:126735600-126737400	Enhancers	HSMMtube	muscle
28	chr5:126735600-126737600	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:126735600-126737600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:126735600-126737800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:126735600-126738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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