Variant report

Variant	rs58675831
Chromosome Location	chr8:95847976-95847977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95846378..95849279-chr8:95857987..95861242,3	K562	blood:
2	chr8:95840487..95843222-chr8:95845510..95849201,3	MCF-7	breast:
3	chr8:95835610..95837975-chr8:95846704..95848359,2	K562	blood:
4	chr8:95846883..95849279-chr8:95857987..95859590,2	K562	blood:
5	chr8:95845660..95850054-chr8:95850479..95855714,7	K562	blood:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10956927	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774806	0.90[ASN][1000 genomes]
rs11775475	0.90[EUR][1000 genomes]
rs11775899	0.82[EUR][1000 genomes]
rs11776131	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776489	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776687	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11777132	0.91[EUR][1000 genomes]
rs11777353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778250	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11779041	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11779252	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11779282	0.84[AMR][1000 genomes]
rs11781099	0.90[ASN][1000 genomes]
rs11781188	0.87[ASN][1000 genomes]
rs11781429	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781712	0.97[EUR][1000 genomes]
rs11781843	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11782617	0.97[EUR][1000 genomes]
rs11783522	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11783589	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11784299	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786021	0.90[ASN][1000 genomes]
rs11786088	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786389	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786429	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786451	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11787442	0.90[ASN][1000 genomes]
rs12056517	0.97[EUR][1000 genomes]
rs12056808	0.97[EUR][1000 genomes]
rs16893774	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16917079	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16917081	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16917082	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16917093	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16917102	0.80[EUR][1000 genomes]
rs16917117	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17359493	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28399553	0.83[EUR][1000 genomes]
rs28399563	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28399571	0.88[EUR][1000 genomes]
rs2904889	0.84[AMR][1000 genomes]
rs4073916	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4075834	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4345531	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4355737	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57063661	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57773845	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58489999	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091366	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59265059	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59521030	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60171840	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986418	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989591	0.99[EUR][1000 genomes]
rs73269162	0.90[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73269188	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73269191	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269198	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73269199	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73271148	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73271178	0.83[EUR][1000 genomes]
rs7834966	0.99[EUR][1000 genomes];0.96[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58675831	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836600-95848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:95836800-95850800	Weak transcription	HSMMtube	muscle
3	chr8:95836800-95866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:95837000-95849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:95837600-95850600	Weak transcription	Fetal Brain Male	brain
9	chr8:95837600-95869800	Weak transcription	Psoas Muscle	Psoas
10	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:95838600-95860400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:95839400-95848000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:95839400-95854800	Strong transcription	Fetal Thymus	thymus
15	chr8:95839400-95857800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr8:95839400-95859600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:95839400-95872200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr8:95839400-95872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:95839400-95872400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:95839400-95872400	Strong transcription	Dnd41	blood
21	chr8:95839400-95872600	Strong transcription	Liver	Liver
22	chr8:95839400-95872600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:95839600-95854600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:95839600-95858000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr8:95839600-95863200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:95839600-95873400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:95839600-95873400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:95839800-95852400	Strong transcription	A549	lung
30	chr8:95840000-95848600	Strong transcription	Fetal Stomach	stomach
31	chr8:95840200-95853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:95840200-95860600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:95840400-95855400	Strong transcription	Primary B cells from cord blood	blood
34	chr8:95840600-95849000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:95840600-95860600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr8:95840600-95873000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:95840800-95860600	Strong transcription	Adipose Nuclei	Adipose
38	chr8:95841200-95849600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:95842000-95850400	Weak transcription	Pancreas	Pancrea
40	chr8:95842800-95857200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:95843000-95848200	Weak transcription	Esophagus	oesophagus
42	chr8:95843000-95850600	Weak transcription	Fetal Kidney	kidney
43	chr8:95843200-95850400	Weak transcription	Aorta	Aorta
44	chr8:95843400-95849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:95843600-95848200	Weak transcription	HepG2	liver
46	chr8:95843600-95850000	Weak transcription	Brain Angular Gyrus	brain
47	chr8:95843600-95850400	Weak transcription	Gastric	stomach
48	chr8:95843600-95850600	Weak transcription	Spleen	Spleen
49	chr8:95843600-95850600	Weak transcription	NHLF	lung
50	chr8:95843800-95848200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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