Variant report

Variant	rs11042088
Chromosome Location	chr11:8843515-8843516
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	chr11:8709021..8711860-chr11:8841578..8843870,2	K562	blood:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10743093	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10769955	0.82[AMR][1000 genomes]
rs10769957	0.81[AMR][1000 genomes]
rs10769967	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769968	0.82[EUR][1000 genomes]
rs10769970	0.80[EUR][1000 genomes]
rs10769971	0.80[EUR][1000 genomes]
rs10769973	0.80[EUR][1000 genomes]
rs10840130	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840134	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10840141	0.81[EUR][1000 genomes]
rs10840142	0.82[EUR][1000 genomes]
rs10840147	0.80[EUR][1000 genomes]
rs10840148	0.80[EUR][1000 genomes]
rs11042069	0.81[AMR][1000 genomes]
rs11042078	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042079	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042082	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042102	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042103	0.83[EUR][1000 genomes]
rs11603841	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12794444	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1529641	0.96[EUR][1000 genomes]
rs1569408	0.82[EUR][1000 genomes]
rs1883098	0.82[EUR][1000 genomes]
rs1988708	0.82[EUR][1000 genomes]
rs1988709	0.84[EUR][1000 genomes]
rs2316865	0.81[AMR][1000 genomes]
rs2568043	0.96[EUR][1000 genomes]
rs2568054	0.82[EUR][1000 genomes]
rs2568059	0.84[EUR][1000 genomes]
rs2568061	0.83[EUR][1000 genomes]
rs2568062	0.83[EUR][1000 genomes]
rs2568065	0.82[EUR][1000 genomes]
rs2568090	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653567	0.82[EUR][1000 genomes]
rs2653593	0.83[EUR][1000 genomes]
rs2653606	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2653607	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2653616	0.83[EUR][1000 genomes]
rs2742550	0.83[EUR][1000 genomes]
rs34842234	0.83[EUR][1000 genomes]
rs4554887	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910062	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61876187	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7119939	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7123429	0.88[EUR][1000 genomes]
rs7123861	0.84[EUR][1000 genomes]
rs7937298	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7943377	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs978636	0.90[AMR][1000 genomes];1.00[EUR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11042088	AKIP1	cis	Thyroid	GTEx
rs11042088	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs11042088	TMEM9B-AS1	cis	lung	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8835600-8845000	Weak transcription	Psoas Muscle	Psoas
3	chr11:8835600-8848800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:8836200-8843600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:8836200-8844000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:8836200-8844200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:8836200-8848000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:8836400-8844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:8836400-8847600	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
11	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
12	chr11:8836800-8847600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:8836800-8848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:8837000-8850000	Weak transcription	Lung	lung
15	chr11:8837200-8843800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:8837200-8847000	Weak transcription	HSMMtube	muscle
17	chr11:8837200-8847200	Weak transcription	NHDF-Ad	bronchial
18	chr11:8837200-8847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:8837200-8847600	Weak transcription	Fetal Kidney	kidney
20	chr11:8837200-8848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:8837200-8848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:8837400-8847000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:8837400-8847200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:8837400-8848000	Weak transcription	NHEK	skin
25	chr11:8837600-8843800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:8837600-8847200	Weak transcription	NHLF	lung
27	chr11:8837800-8848400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:8838000-8848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:8838200-8843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:8838600-8844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:8839000-8849400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:8839200-8847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:8839200-8849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:8840600-8843800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:8841000-8847800	Weak transcription	Fetal Stomach	stomach
36	chr11:8841400-8844000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:8841400-8844800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:8843200-8843800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:8843200-8845000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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