Variant report

Variant	rs58929175
Chromosome Location	chr8:54914953-54914954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54913093..54915399-chr8:54918216..54919882,3	K562	blood:
2	chr8:54914226..54918426-chr8:54921603..54924187,3	K562	blood:
3	chr8:54906019..54908425-chr8:54912790..54915264,2	K562	blood:
4	chr8:54914380..54917012-chr8:54932439..54934491,2	MCF-7	breast:
5	chr8:54913084..54915375-chr8:54917317..54918992,2	K562	blood:

Variant related genes	Relation type
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10101097	0.90[ASN][1000 genomes]
rs10113246	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1050523	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958396	0.82[ASN][1000 genomes]
rs11986577	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11993367	0.93[ASN][1000 genomes]
rs11994629	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11996666	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997954	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056381	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674671	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676510	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12677696	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1828835	0.85[ASN][1000 genomes]
rs2037068	0.93[ASN][1000 genomes]
rs2375697	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28494618	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4440612	0.98[ASN][1000 genomes]
rs4506187	0.93[ASN][1000 genomes]
rs4515510	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737457	0.93[ASN][1000 genomes]
rs4737479	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4737485	0.82[ASN][1000 genomes]
rs4737486	0.85[ASN][1000 genomes]
rs4737488	0.82[ASN][1000 genomes]
rs4738519	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738544	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738556	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738586	0.98[ASN][1000 genomes]
rs57872947	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58387069	0.85[ASN][1000 genomes]
rs58419852	0.85[ASN][1000 genomes]
rs58948369	0.84[ASN][1000 genomes]
rs59882028	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60183530	0.85[ASN][1000 genomes]
rs61271559	0.81[ASN][1000 genomes]
rs61319412	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473900	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473909	0.83[ASN][1000 genomes]
rs6983694	0.85[ASN][1000 genomes]
rs7009781	0.99[ASN][1000 genomes]
rs7011379	0.84[ASN][1000 genomes]
rs7011430	0.80[ASN][1000 genomes]
rs72614663	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72614664	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614665	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614666	0.85[ASN][1000 genomes]
rs72614667	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72614668	0.83[ASN][1000 genomes]
rs7463261	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7464767	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815216	0.97[ASN][1000 genomes]
rs9298497	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643823	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643824	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
7	chr8:54898400-54915600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:54899000-54915400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:54899000-54916000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:54899000-54916600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:54899000-54916600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:54899800-54918200	Weak transcription	Small Intestine	intestine
14	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
15	chr8:54900600-54922000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
18	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
19	chr8:54901400-54926600	Weak transcription	Pancreas	Pancrea
20	chr8:54903400-54924800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:54903800-54923800	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
24	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
25	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
26	chr8:54904000-54922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:54904200-54926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:54904400-54918200	Strong transcription	K562	blood
30	chr8:54905200-54915600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr8:54905200-54917200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:54905400-54922400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:54905400-54926600	Weak transcription	Ovary	ovary
34	chr8:54905600-54922000	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:54905800-54918400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:54906000-54918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:54908200-54926800	Weak transcription	Osteobl	bone
38	chr8:54908200-54931000	Weak transcription	Thymus	Thymus
39	chr8:54908800-54919200	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:54909000-54916600	Weak transcription	Left Ventricle	heart
41	chr8:54909000-54917400	Weak transcription	Brain Angular Gyrus	brain
42	chr8:54909000-54921800	Weak transcription	Fetal Heart	heart
43	chr8:54909000-54923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:54909000-54928800	Weak transcription	Gastric	stomach
45	chr8:54909000-54930800	Weak transcription	HUVEC	blood vessel
46	chr8:54909000-54931800	Weak transcription	Lung	lung
47	chr8:54909200-54916800	Weak transcription	Fetal Lung	lung
48	chr8:54909200-54922000	Weak transcription	NHDF-Ad	bronchial
49	chr8:54909200-54932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:54909200-54933000	Weak transcription	Rectal Mucosa Donor 31	rectum

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