Variant report

Variant	rs405030
Chromosome Location	chr5:75659679-75659680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75658383..75662458-chr5:75697125..75701637,7	K562	blood:
2	chr5:75657897..75659755-chr5:75662436..75665330,2	K562	blood:
3	chr5:75658187..75661153-chr5:75667943..75670127,2	K562	blood:

Variant related genes	Relation type
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10045331	1.00[CHD][hapmap]
rs10062226	1.00[CHD][hapmap]
rs13183341	1.00[CHD][hapmap]
rs192196	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455429	0.85[EUR][1000 genomes]
rs246784	1.00[CEU][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs246785	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246789	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913245	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972864	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972865	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972866	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372733	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235697	0.90[EUR][1000 genomes]
rs4703706	0.85[EUR][1000 genomes]
rs4704307	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs405030	GFM2	cis	cerebellum	SCAN
rs405030	CMYA5	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75649800-75662600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:75657000-75661600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:75657200-75660800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:75659000-75659800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:75659000-75660600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:75659200-75660000	Enhancers	Stomach Mucosa	stomach
7	chr5:75659400-75660000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:75659400-75660000	Enhancers	Fetal Lung	lung
9	chr5:75659400-75660200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:75659400-75660200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:75659400-75660400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:75659400-75660400	Enhancers	Liver	Liver
13	chr5:75659400-75660400	Flanking Active TSS	K562	blood
14	chr5:75659400-75660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:75659600-75660000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr5:75659600-75660000	Enhancers	Pancreas	Pancrea
17	chr5:75659600-75660000	Enhancers	Right Ventricle	heart
18	chr5:75659600-75660200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:75659600-75660200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:75659600-75660200	Enhancers	Fetal Brain Male	brain
21	chr5:75659600-75660200	Enhancers	Fetal Heart	heart
22	chr5:75659600-75660400	Enhancers	Brain Germinal Matrix	brain
23	chr5:75659600-75660400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:75659600-75660400	Enhancers	HepG2	liver
25	chr5:75659600-75662400	Enhancers	Primary monocytes fromperipheralblood	blood

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