Variant report

Variant	rs73691187
Chromosome Location	chr8:67948992-67948993
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	chr8:67945623..67948151-chr8:67948427..67950250,2	K562	blood:
2	chr8:67831739..67833630-chr8:67947662..67949714,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1138476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988175	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989855	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992626	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466283	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933065	1.00[ASN][1000 genomes]
rs16933071	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933097	1.00[ASN][1000 genomes]
rs16933148	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377622	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783506	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55908039	0.84[EUR][1000 genomes]
rs55993413	0.84[EUR][1000 genomes]
rs56041142	1.00[ASN][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56717011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57530222	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60624770	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60964596	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61552467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004549	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73691161	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691188	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693110	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693114	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693117	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693129	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693148	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73693149	0.84[EUR][1000 genomes]
rs73693150	0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7816746	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7831052	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802652	chr8:67894007-67964309	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67941200-67953400	Weak transcription	Fetal Stomach	stomach
2	chr8:67941200-67953800	Weak transcription	Placenta	Placenta
3	chr8:67941200-67954400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:67941200-67954400	Weak transcription	Spleen	Spleen
5	chr8:67941200-67954600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:67941200-67954800	Weak transcription	NH-A	brain
7	chr8:67941200-67957400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:67941400-67953600	Weak transcription	Liver	Liver
9	chr8:67941400-67954600	Weak transcription	A549	lung
10	chr8:67941600-67952800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:67941600-67953800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:67941600-67954400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:67941600-67956000	Weak transcription	Brain Germinal Matrix	brain
14	chr8:67941600-67963000	Weak transcription	Fetal Heart	heart
15	chr8:67941800-67953600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:67942000-67950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:67942000-67954200	Weak transcription	Fetal Lung	lung
18	chr8:67942000-67954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:67942200-67954400	Weak transcription	GM12878-XiMat	blood
20	chr8:67946000-67959800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:67947400-67955400	Weak transcription	HMEC	breast
22	chr8:67948200-67953600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:67948400-67950200	Weak transcription	NHEK	skin
24	chr8:67948400-67953600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:67948400-67954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:67948400-67960000	Weak transcription	Gastric	stomach

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