Variant report

Variant	rs10840136
Chromosome Location	chr11:8885024-8885025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10743093	0.81[EUR][1000 genomes]
rs10769968	0.82[EUR][1000 genomes]
rs10769970	0.81[EUR][1000 genomes]
rs10769971	0.81[EUR][1000 genomes]
rs10769973	0.81[EUR][1000 genomes]
rs10840141	0.81[EUR][1000 genomes]
rs10840142	0.82[EUR][1000 genomes]
rs10840147	0.81[EUR][1000 genomes]
rs10840148	0.81[EUR][1000 genomes]
rs11042102	0.82[EUR][1000 genomes]
rs11042103	0.82[EUR][1000 genomes]
rs1529641	0.84[ASN][1000 genomes]
rs1569408	0.82[EUR][1000 genomes]
rs1883098	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988708	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988709	0.83[EUR][1000 genomes]
rs2568043	0.83[ASN][1000 genomes]
rs2568054	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568059	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568061	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568062	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568065	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653567	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653593	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2653607	0.84[ASN][1000 genomes]
rs2653613	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2653616	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742480	0.80[EUR][1000 genomes]
rs2742536	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742537	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742540	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2742545	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742550	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2742552	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34842234	0.82[EUR][1000 genomes]
rs4910157	0.86[EUR][1000 genomes]
rs7118463	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7123429	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7123861	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10840136	TMEM9B-AS1	cis	Artery Aorta	GTEx
rs10840136	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10840136	TMEM9B-AS1	cis	lung	GTEx
rs10840136	TMEM9B-AS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8862400-8888400	Weak transcription	Right Atrium	heart
2	chr11:8862600-8885200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:8863200-8890400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:8864000-8888000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:8865800-8886000	Weak transcription	Fetal Stomach	stomach
6	chr11:8877400-8888600	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:8877400-8888600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:8878200-8891800	Weak transcription	Psoas Muscle	Psoas
9	chr11:8879400-8885600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:8880200-8892000	Weak transcription	Gastric	stomach
11	chr11:8880400-8885800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:8880400-8888000	Weak transcription	Stomach Mucosa	stomach
13	chr11:8880400-8888200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:8880400-8889200	Weak transcription	Lung	lung
15	chr11:8881400-8888200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:8883200-8885400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:8884200-8887200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:8884200-8887200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:8884200-8887800	Enhancers	Hela-S3	cervix
20	chr11:8884200-8889600	Enhancers	NHDF-Ad	bronchial
21	chr11:8884400-8885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:8884400-8885400	Weak transcription	Ovary	ovary
23	chr11:8884400-8885400	Weak transcription	Small Intestine	intestine
24	chr11:8884400-8885600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:8884400-8885800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:8884400-8885800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr11:8884400-8885800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:8884400-8886200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:8884400-8889000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:8884400-8891800	Weak transcription	Left Ventricle	heart
31	chr11:8884600-8885800	Weak transcription	Spleen	Spleen
32	chr11:8884800-8885200	Active TSS	HepG2	liver
33	chr11:8884800-8885800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:8884800-8885800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:8885000-8885200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:8885000-8885400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:8885000-8885800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:8885000-8886000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:8885000-8886000	Enhancers	Esophagus	oesophagus
40	chr11:8885000-8886000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:8885000-8886200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:8885000-8886200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:8885000-8886200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:8885000-8886200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr11:8885000-8886200	Enhancers	Placenta	Placenta
46	chr11:8885000-8886400	Enhancers	Osteobl	bone
47	chr11:8885000-8886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:8885000-8887200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:8885000-8888200	Enhancers	NHLF	lung

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