Variant report

Variant	rs35628566
Chromosome Location	chr4:79545453-79545454
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	chr4:79542556..79545467-chr4:79549942..79551796,4	K562	blood:
2	chr4:79539469..79541784-chr4:79542967..79545654,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1042515	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11727844	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11728517	0.86[ASN][1000 genomes]
rs12640075	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12641789	0.82[AMR][1000 genomes]
rs17003396	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4382063	0.82[AMR][1000 genomes]
rs56023152	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57415147	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57896096	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59133103	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5950	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67280698	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6817792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6819559	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6836185	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6837823	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72607862	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72607863	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72607864	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72607865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72607866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7661370	0.81[ASN][1000 genomes]
rs7668240	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7686273	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35628566	RP11-792D21.2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:79533800-79548800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:79534600-79547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:79536400-79550600	Weak transcription	Left Ventricle	heart
5	chr4:79537000-79545800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:79539200-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:79539400-79550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:79539600-79550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:79542200-79555600	Enhancers	Fetal Intestine Small	intestine
10	chr4:79542600-79555600	Enhancers	Fetal Intestine Large	intestine
11	chr4:79542800-79546000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:79543000-79545600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:79544000-79548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:79544200-79547800	Weak transcription	NHLF	lung
15	chr4:79544200-79548000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:79544200-79548000	Weak transcription	Hela-S3	cervix
17	chr4:79544200-79548200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:79544200-79550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:79544400-79548000	Weak transcription	Osteobl	bone
20	chr4:79545000-79546000	Enhancers	K562	blood
21	chr4:79545200-79545600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:79545200-79545600	Enhancers	Placenta	Placenta
23	chr4:79545200-79545800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:79545200-79546600	Enhancers	GM12878-XiMat	blood
25	chr4:79545400-79545600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:79545400-79545800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:79545400-79545800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:79545400-79545800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:79545400-79545800	Enhancers	NHDF-Ad	bronchial
30	chr4:79545400-79546000	Enhancers	HepG2	liver
31	chr4:79545400-79546200	Enhancers	A549	lung

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