Variant report

Variant	rs10096850
Chromosome Location	chr8:8798222-8798223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8791750..8794485-chr8:8798173..8800628,2	K562	blood:
2	chr8:8705274..8707873-chr8:8797138..8799236,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11779804	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11780774	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13250781	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17154955	0.84[ASN][1000 genomes]
rs17154958	0.84[ASN][1000 genomes]
rs17154970	0.87[ASN][1000 genomes]
rs17700611	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28572014	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36056437	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4840376	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55653709	0.84[ASN][1000 genomes]
rs55774328	0.84[ASN][1000 genomes]
rs56675832	0.84[ASN][1000 genomes]
rs57528061	0.87[ASN][1000 genomes]
rs58504719	0.84[ASN][1000 genomes]
rs61293336	0.97[ASN][1000 genomes]
rs6981745	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6999615	0.97[ASN][1000 genomes]
rs7000323	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7001187	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7013171	0.90[ASN][1000 genomes]
rs73662211	0.87[ASN][1000 genomes]
rs73662212	0.87[ASN][1000 genomes]
rs73662213	0.87[ASN][1000 genomes]
rs73662215	0.97[ASN][1000 genomes]
rs73662217	0.97[ASN][1000 genomes]
rs73662220	0.90[ASN][1000 genomes]
rs73662221	0.90[ASN][1000 genomes]
rs7843024	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7843369	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7843789	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7845167	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10096850	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs10096850	CTA-398F10.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8779600-8799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:8780600-8799800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:8781000-8799800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:8782400-8799800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:8791600-8799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:8792400-8800200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:8792600-8798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:8793000-8802600	Weak transcription	Small Intestine	intestine
12	chr8:8793400-8804200	Weak transcription	Right Atrium	heart
13	chr8:8794000-8798600	Weak transcription	Placenta	Placenta
14	chr8:8794200-8807200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:8794600-8799800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:8794600-8800000	Weak transcription	Dnd41	blood
17	chr8:8794800-8799600	Weak transcription	K562	blood
18	chr8:8796200-8798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:8796200-8798600	Enhancers	Osteobl	bone
20	chr8:8796200-8799800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:8796200-8799800	Weak transcription	Fetal Thymus	thymus
22	chr8:8796400-8799800	Weak transcription	Fetal Intestine Small	intestine
23	chr8:8796600-8799000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:8796600-8799200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:8796600-8799400	Weak transcription	Adipose Nuclei	Adipose
26	chr8:8796600-8799800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:8796600-8800600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:8796600-8803200	Weak transcription	Fetal Intestine Large	intestine
29	chr8:8796800-8819600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:8797000-8798400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:8797200-8798400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:8797400-8799400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:8797400-8800200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:8797400-8800600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:8797400-8800800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:8797600-8800000	Weak transcription	Stomach Mucosa	stomach
37	chr8:8798000-8798400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:8798000-8798800	Enhancers	HepG2	liver
39	chr8:8798000-8799400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:8798000-8800000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:8798000-8800200	Enhancers	Fetal Muscle Leg	muscle
42	chr8:8798200-8798400	Enhancers	Fetal Brain Female	brain
43	chr8:8798200-8798600	Enhancers	Fetal Brain Male	brain
44	chr8:8798200-8799400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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