Variant report

Variant	rs10993068
Chromosome Location	chr9:96906751-96906752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96905663..96907940-chr9:96926715..96928230,2	K562	blood:
2	chr9:96900996..96905420-chr9:96905582..96911723,7	K562	blood:
3	chr9:96905504..96908787-chr9:96918594..96920364,3	MCF-7	breast:
4	chr9:96906617..96908143-chr9:96928406..96930342,2	K562	blood:
5	chr9:96906524..96908540-chr9:96912648..96916811,3	K562	blood:
6	chr9:96904365..96907195-chr9:96908218..96912337,3	MCF-7	breast:
7	chr9:96906443..96908143-chr9:96928406..96930197,2	K562	blood:
8	chr9:96901943..96905386-chr9:96905431..96909431,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10114341	0.83[CHD][hapmap]
rs10118003	0.83[CHD][hapmap]
rs10512231	1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[ASN][1000 genomes]
rs10761319	0.88[AFR][1000 genomes]
rs10993069	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993070	0.98[LWK][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs10993090	0.81[ASN][1000 genomes]
rs10993094	0.81[ASN][1000 genomes]
rs11788788	0.96[ASN][1000 genomes]
rs12336926	0.95[ASN][1000 genomes]
rs12337981	0.96[ASN][1000 genomes]
rs12338333	0.96[ASN][1000 genomes]
rs12338885	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12339587	0.96[ASN][1000 genomes]
rs12341175	0.96[ASN][1000 genomes]
rs12347752	0.81[ASN][1000 genomes]
rs12551579	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12551589	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13295163	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439971	0.95[ASN][1000 genomes]
rs13440059	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs1421135	1.00[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs34582118	0.93[ASN][1000 genomes]
rs34765284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36044301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55881323	0.93[ASN][1000 genomes]
rs56006511	0.93[ASN][1000 genomes]
rs62575976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575977	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578777	0.96[ASN][1000 genomes]
rs62578780	0.93[ASN][1000 genomes]
rs62578801	0.81[ASN][1000 genomes]
rs7037996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041934	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864156	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7872931	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs7873928	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10993068	HIATL1	cis	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96900400-96907400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:96903000-96912000	Weak transcription	HepG2	liver
3	chr9:96903800-96909200	Weak transcription	Hela-S3	cervix
4	chr9:96903800-96910800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:96904000-96912800	Weak transcription	NH-A	brain
6	chr9:96904000-96927200	Weak transcription	Thymus	Thymus
7	chr9:96904400-96907800	Weak transcription	Fetal Lung	lung
8	chr9:96904400-96909000	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:96904400-96912600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:96904600-96906800	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:96904600-96913200	Weak transcription	Adipose Nuclei	Adipose
12	chr9:96904800-96910200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:96904800-96912000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:96904800-96912000	Weak transcription	Spleen	Spleen
15	chr9:96905400-96907400	Enhancers	Lung	lung
16	chr9:96906200-96906800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr9:96906200-96907000	Enhancers	Aorta	Aorta
18	chr9:96906200-96907000	Enhancers	Placenta	Placenta
19	chr9:96906200-96907400	Enhancers	Gastric	stomach
20	chr9:96906200-96908000	Enhancers	Stomach Mucosa	stomach
21	chr9:96906400-96906800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:96906400-96907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:96906400-96907200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:96906400-96907200	Enhancers	Fetal Thymus	thymus
25	chr9:96906400-96907400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:96906400-96907400	Enhancers	Esophagus	oesophagus
27	chr9:96906400-96908000	Enhancers	Pancreas	Pancrea
28	chr9:96906400-96908200	Enhancers	K562	blood
29	chr9:96906600-96906800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:96906600-96906800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:96906600-96906800	Enhancers	Psoas Muscle	Psoas
32	chr9:96906600-96907000	Enhancers	Fetal Stomach	stomach
33	chr9:96906600-96907200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:96906600-96907200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:96906600-96907400	Enhancers	NHEK	skin

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