Variant report

Variant	rs34231825
Chromosome Location	chr8:63949095-63949096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10112226	0.88[ASN][1000 genomes]
rs1031551	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11545076	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11545077	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988534	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989788	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544045	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547126	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682204	0.89[AFR][1000 genomes]
rs13267266	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273611	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1378526	0.91[ASN][1000 genomes]
rs1800909	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963947	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963948	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34099334	0.87[AFR][1000 genomes]
rs34169986	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34264705	0.91[ASN][1000 genomes]
rs34349258	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34417501	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34428496	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34499912	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34554414	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34565227	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34753538	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35331190	0.80[AMR][1000 genomes]
rs35525331	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35551451	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35791650	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35915855	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35945381	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758149	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501570	0.91[ASN][1000 genomes]
rs4587328	0.91[ASN][1000 genomes]
rs4606052	0.91[ASN][1000 genomes]
rs4625028	0.88[ASN][1000 genomes]
rs4737628	0.88[ASN][1000 genomes]
rs57403824	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57800685	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62510072	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510090	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472072	0.88[ASN][1000 genomes]
rs6472073	0.88[ASN][1000 genomes]
rs66666227	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67742771	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994076	0.88[ASN][1000 genomes]
rs7006471	0.91[ASN][1000 genomes]
rs7823031	0.83[ASN][1000 genomes]
rs9792158	0.91[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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34231825	GGH	cis	Esophagus Mucosa	GTEx
rs34231825	GGH	cis	Skin Sun Exposed Lower leg	GTEx
rs34231825	GGH	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
2	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:63922800-63950000	Weak transcription	HMEC	breast
4	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
6	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
8	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:63935400-63949200	Weak transcription	K562	blood
10	chr8:63935800-63950000	Weak transcription	NHDF-Ad	bronchial
11	chr8:63936200-63949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:63936400-63949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:63936800-63949800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:63936800-63949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:63938000-63949200	Weak transcription	NHEK	skin
16	chr8:63938000-63950000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:63938200-63950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:63938600-63949200	Weak transcription	HUVEC	blood vessel
19	chr8:63939200-63950000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:63939600-63949200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:63941200-63949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:63942600-63950000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:63943600-63949600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:63945800-63949200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:63945800-63949800	Weak transcription	Fetal Intestine Large	intestine
26	chr8:63945800-63950600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:63945800-63950800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:63946000-63949800	Weak transcription	A549	lung
29	chr8:63946000-63950600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:63946000-63950800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:63947400-63949800	Weak transcription	Hela-S3	cervix
32	chr8:63948600-63950000	Enhancers	NH-A	brain
33	chr8:63948600-63950600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:63948800-63949600	Enhancers	Brain Angular Gyrus	brain
35	chr8:63948800-63949600	Active TSS	GM12878-XiMat	blood
36	chr8:63948800-63949800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:63948800-63949800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:63949000-63949200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:63949000-63949200	Enhancers	NHLF	lung
40	chr8:63949000-63949400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:63949000-63949800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:63949000-63950000	Flanking Active TSS	Liver	Liver
43	chr8:63949000-63950200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:63949000-63950400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:63949000-63950400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr8:63949000-63950400	Flanking Active TSS	HepG2	liver

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