Variant report

Variant	rs6817792
Chromosome Location	chr4:79549303-79549304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79547801..79550163-chr4:79699958..79704022,3	K562	blood:
2	chr4:79534010..79538453-chr4:79546769..79551125,4	K562	blood:
3	chr4:79547404..79551814-chr4:79694410..79698430,6	K562	blood:
4	chr4:79548752..79551333-chr4:79698595..79700948,2	K562	blood:
5	chr4:79549039..79550674-chr4:79611784..79614679,2	K562	blood:
6	chr4:79534997..79539335-chr4:79548255..79551176,6	K562	blood:
7	chr4:79549184..79553600-chr4:79560172..79565329,6	K562	blood:
8	chr4:79547404..79553256-chr4:79694666..79698430,7	K562	blood:
9	chr4:79527750..79532040-chr4:79547937..79551505,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238816	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1042515	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11725235	0.80[CHB][hapmap]
rs11727844	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11728517	0.84[ASN][1000 genomes]
rs11729862	0.85[JPT][hapmap]
rs12640075	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12641789	0.82[AMR][1000 genomes]
rs17003396	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35628566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4382063	0.85[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs56023152	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57415147	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57896096	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59133103	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5950	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67280698	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6819559	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836185	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6837823	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72607862	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72607863	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72607864	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72607865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72607866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7661370	0.93[CHB][hapmap]
rs7668240	0.85[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7672903	0.80[CHB][hapmap]
rs7686273	0.93[CHB][hapmap]
rs7694152	0.80[CHB][hapmap]

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
rs6817792	RP11-792D21.2	cis	Whole Blood	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79536400-79550600	Weak transcription	Left Ventricle	heart
2	chr4:79539200-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:79539400-79550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:79539600-79550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:79542200-79555600	Enhancers	Fetal Intestine Small	intestine
6	chr4:79542600-79555600	Enhancers	Fetal Intestine Large	intestine
7	chr4:79544200-79550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:79545800-79549600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:79545800-79550000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:79545800-79550200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:79545800-79550800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:79546200-79550000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:79546600-79553000	Enhancers	Placenta	Placenta
14	chr4:79547600-79550200	Enhancers	GM12878-XiMat	blood
15	chr4:79547600-79551800	Enhancers	Stomach Mucosa	stomach
16	chr4:79547800-79550400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:79548000-79549600	Enhancers	HMEC	breast
18	chr4:79548000-79549600	Enhancers	K562	blood
19	chr4:79548000-79550000	Weak transcription	Brain Angular Gyrus	brain
20	chr4:79548000-79550400	Enhancers	NHEK	skin
21	chr4:79548000-79551800	Enhancers	HepG2	liver
22	chr4:79548000-79553200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:79548200-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:79548200-79550200	Weak transcription	Dnd41	blood
25	chr4:79548200-79551200	Weak transcription	Colonic Mucosa	Colon
26	chr4:79548200-79552600	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:79548200-79555000	Weak transcription	Osteobl	bone
28	chr4:79548400-79549600	Enhancers	Small Intestine	intestine
29	chr4:79548600-79549600	Enhancers	Liver	Liver
30	chr4:79548600-79550000	Weak transcription	NHDF-Ad	bronchial
31	chr4:79548600-79553600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:79548800-79549800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:79548800-79550000	Weak transcription	Hela-S3	cervix
34	chr4:79548800-79550200	Weak transcription	Brain Anterior Caudate	brain
35	chr4:79548800-79550200	Weak transcription	Pancreas	Pancrea
36	chr4:79548800-79552200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr4:79548800-79557400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:79549000-79550200	Weak transcription	Gastric	stomach
39	chr4:79549000-79550200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:79549000-79550600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:79549000-79550600	Weak transcription	Brain Substantia Nigra	brain

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