Variant report

Variant	rs10993131
Chromosome Location	chr9:97030930-97030931
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	chr9:97020628..97022999-chr9:97030630..97033339,2	K562	blood:

Variant related genes	Relation type
ENSG00000175787	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10435925	0.85[AMR][1000 genomes]
rs10435926	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10821327	0.95[ASN][1000 genomes]
rs10993127	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993130	0.95[ASN][1000 genomes]
rs10993137	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10993139	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10993140	0.85[ASN][1000 genomes]
rs10993143	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10993144	0.86[AMR][1000 genomes]
rs10993147	0.86[AMR][1000 genomes]
rs10993151	0.83[AMR][1000 genomes]
rs11533012	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11535539	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12235386	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12235970	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12236219	0.85[AMR][1000 genomes]
rs12347577	0.95[ASN][1000 genomes]
rs1328305	0.83[AMR][1000 genomes]
rs3118766	0.88[ASN][1000 genomes]
rs7024915	0.82[AMR][1000 genomes]
rs7027606	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7028040	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7045405	0.82[ASN][1000 genomes]
rs9695761	0.85[ASN][1000 genomes]
rs9696597	0.89[AMR][1000 genomes];0.85[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	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
2	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases
3	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
4	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10993131	HIATL1	cis	Whole Blood	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97022200-97031400	Weak transcription	Left Ventricle	heart
2	chr9:97022200-97031600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:97022200-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:97022200-97031600	Weak transcription	HSMMtube	muscle
5	chr9:97022200-97033400	Weak transcription	Fetal Stomach	stomach
6	chr9:97022200-97040800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:97022200-97041800	Weak transcription	Fetal Lung	lung
8	chr9:97022200-97042600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:97022200-97055200	Weak transcription	Aorta	Aorta
10	chr9:97022400-97031400	Weak transcription	NHEK	skin
11	chr9:97022400-97036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:97022600-97040600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:97022600-97055200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:97022800-97031400	Weak transcription	Psoas Muscle	Psoas
15	chr9:97022800-97040800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:97022800-97040800	Weak transcription	Thymus	Thymus
17	chr9:97022800-97042400	Weak transcription	Brain Angular Gyrus	brain
18	chr9:97022800-97054600	Weak transcription	Pancreas	Pancrea
19	chr9:97023000-97031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:97023000-97036400	Weak transcription	Primary T cells from cord blood	blood
21	chr9:97023000-97040600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:97023000-97040600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr9:97023000-97040600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:97023000-97040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:97023000-97040600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:97023000-97040800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:97023000-97040800	Weak transcription	Lung	lung
28	chr9:97023000-97041000	Weak transcription	Adipose Nuclei	Adipose
29	chr9:97023000-97041000	Weak transcription	Ovary	ovary
30	chr9:97023000-97041800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:97023000-97041800	Weak transcription	Esophagus	oesophagus
32	chr9:97023000-97050000	Weak transcription	Right Ventricle	heart
33	chr9:97023000-97055400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr9:97023400-97042800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:97023600-97040800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:97024000-97041200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr9:97024200-97035000	Weak transcription	GM12878-XiMat	blood
38	chr9:97024400-97040400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr9:97026200-97033600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:97027000-97040600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr9:97028200-97031200	Enhancers	HepG2	liver
42	chr9:97028200-97032600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:97029000-97039000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:97029400-97033400	Weak transcription	Stomach Mucosa	stomach
45	chr9:97029600-97031200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:97029600-97038800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:97029600-97041800	Weak transcription	Spleen	Spleen
48	chr9:97030200-97031400	Weak transcription	A549	lung
49	chr9:97030200-97033800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:97030200-97036200	Weak transcription	Monocytes-CD14+_RO01746	blood

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