Variant report

Variant	rs7127197
Chromosome Location	chr11:8845607-8845608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10522860	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10734638	0.81[EUR][1000 genomes]
rs10840127	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840129	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042070	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11042072	0.86[ASN][1000 genomes]
rs11042099	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16906056	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17337866	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1811367	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2568029	0.80[EUR][1000 genomes]
rs2568035	0.82[EUR][1000 genomes]
rs2568056	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2653558	0.80[EUR][1000 genomes]
rs2653591	0.89[ASN][1000 genomes]
rs2653618	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2742549	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2742553	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34023999	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34033747	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34152382	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34275210	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34371023	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34417491	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34418236	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34581555	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34769330	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35503692	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35563381	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35580466	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35909878	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36094920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36100955	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36180552	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850934	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3915868	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910068	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4929915	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7117900	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7950491	0.89[AMR][1000 genomes];0.96[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7127197	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8835600-8848800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:8836200-8848000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:8836400-8847600	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
7	chr11:8836800-8847600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:8836800-8848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:8837000-8850000	Weak transcription	Lung	lung
10	chr11:8837200-8847000	Weak transcription	HSMMtube	muscle
11	chr11:8837200-8847200	Weak transcription	NHDF-Ad	bronchial
12	chr11:8837200-8847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:8837200-8847600	Weak transcription	Fetal Kidney	kidney
14	chr11:8837200-8848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:8837200-8848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:8837400-8847000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:8837400-8847200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:8837400-8848000	Weak transcription	NHEK	skin
19	chr11:8837600-8847200	Weak transcription	NHLF	lung
20	chr11:8837800-8848400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:8838000-8848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:8839000-8849400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:8839200-8847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:8839200-8849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:8841000-8847800	Weak transcription	Fetal Stomach	stomach
26	chr11:8844000-8848000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:8844600-8846800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:8844600-8847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:8844600-8847000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:8844600-8847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:8844600-8847200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:8844600-8847200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:8844600-8847200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:8845000-8847000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:8845000-8847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:8845000-8847400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:8845000-8848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:8845200-8847000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:8845200-8847400	Weak transcription	K562	blood
40	chr11:8845200-8848000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:8845200-8854200	Weak transcription	Psoas Muscle	Psoas

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