Variant report

Variant	rs7033315
Chromosome Location	chr9:100636240-100636241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100634662..100636711-chr9:100679210..100681058,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10046805	0.85[AFR][1000 genomes]
rs10113907	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10119795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10818239	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11999801	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12003789	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12238579	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12341377	0.82[AFR][1000 genomes]
rs12347191	0.85[AFR][1000 genomes]
rs12348304	0.83[AFR][1000 genomes]
rs12348691	0.80[AFR][1000 genomes]
rs13300874	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13301569	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1443434	0.81[CHB][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs1443435	0.81[CHB][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs1561958	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1561959	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1867277	0.82[AFR][1000 genomes]
rs1867278	0.91[YRI][hapmap]
rs1867280	0.83[AFR][1000 genomes]
rs2120263	0.88[CHB][hapmap]
rs2282192	0.88[CHB][hapmap]
rs2401639	0.80[AFR][1000 genomes]
rs2417577	0.81[CHB][hapmap]
rs3183927	0.81[CHB][hapmap]
rs3758248	0.81[AFR][1000 genomes]
rs3758249	0.81[CHB][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs3758251	0.81[CHB][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs3758253	0.82[CHB][hapmap]
rs3758254	0.81[CHB][hapmap]
rs3780420	0.81[CHB][hapmap]
rs4460498	0.85[AFR][1000 genomes]
rs4631576	0.81[CHB][hapmap]
rs4743140	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743147	0.84[CHB][hapmap]
rs6478437	0.80[AFR][1000 genomes]
rs6478450	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6586	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67449879	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7020644	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7043516	0.82[YRI][hapmap]
rs7357707	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7851552	0.83[AFR][1000 genomes]
rs7853349	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7870125	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs874004	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs894673	0.81[CHB][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs907577	0.81[CHB][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7033315	FOXE1	cis	Esophagus Mucosa	GTEx
rs7033315	C9orf156	cis	Skin Sun Exposed Lower leg	GTEx
rs7033315	C9orf156	cis	Cerebellum	GTEx
rs7033315	Hs.43687	cis	multi-tissue	Pritchard
rs7033315	C9orf156	cis	Frontal Cortex	GTEx
rs7033315	C9orf156	cis	Thyroid	GTEx
rs7033315	C9orf156	cis	Brain Pons	GTEx
rs7033315	C9orf156	cis	Temporal Cortex	GTEx
rs7033315	C9orf156	cis	Esophagus Muscularis	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100631800-100639400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:100634800-100637200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:100635800-100636400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:100635800-100636400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:100635800-100636600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:100635800-100636600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:100635800-100636800	Enhancers	Hela-S3	cervix
8	chr9:100635800-100638400	Enhancers	Esophagus	oesophagus
9	chr9:100635800-100640400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:100636000-100636400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:100636000-100638800	Enhancers	NHEK	skin
12	chr9:100636000-100639200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:100636000-100639200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:100636000-100640400	Enhancers	HMEC	breast
15	chr9:100636200-100636400	Enhancers	HSMM	muscle
16	chr9:100636200-100636600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:100636200-100636600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr9:100636200-100636600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:100636200-100636800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:100636200-100638400	Enhancers	A549	lung

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