Variant report

Variant	rs11042060
Chromosome Location	chr11:8796555-8796556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8792754..8796675-chr11:8797137..8799307,3	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10769947	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10769948	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769955	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769957	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769958	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10840130	0.82[AMR][1000 genomes]
rs11042055	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11042059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042067	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11042069	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042079	0.81[AMR][1000 genomes]
rs11042082	0.80[AMR][1000 genomes]
rs12224436	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12421789	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2316865	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3763918	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3794153	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4554887	0.80[AMR][1000 genomes]
rs4579928	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4929911	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4929912	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4929914	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4929916	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61876187	0.81[AMR][1000 genomes]
rs6484484	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6484496	0.85[EUR][1000 genomes]
rs7107867	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7129667	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7944560	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs905290	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11042060	TMEM9B-AS1	cis	lung	GTEx
rs11042060	TMEM9B-AS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8779600-8799600	Weak transcription	Fetal Brain Male	brain
2	chr11:8785200-8799400	Enhancers	Fetal Heart	heart
3	chr11:8786600-8798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:8786600-8803000	Enhancers	Ovary	ovary
5	chr11:8787000-8797800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:8788200-8797000	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:8788600-8799600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:8788800-8801400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:8789000-8801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:8789400-8797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8789400-8797400	Weak transcription	Brain Substantia Nigra	brain
13	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
14	chr11:8789600-8799400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:8789600-8805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:8790800-8797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:8791400-8797000	Weak transcription	Psoas Muscle	Psoas
18	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
19	chr11:8792400-8797000	Enhancers	Colon Smooth Muscle	Colon
20	chr11:8792600-8802400	Genic enhancers	Fetal Stomach	stomach
21	chr11:8793000-8797600	Enhancers	NHLF	lung
22	chr11:8793000-8798000	Weak transcription	Liver	Liver
23	chr11:8793200-8801600	Genic enhancers	Fetal Muscle Leg	muscle
24	chr11:8794000-8796800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:8794000-8799400	Enhancers	Spleen	Spleen
26	chr11:8794200-8796800	Enhancers	Colonic Mucosa	Colon
27	chr11:8794200-8798200	Enhancers	Lung	lung
28	chr11:8794200-8798400	Enhancers	Right Atrium	heart
29	chr11:8794200-8799400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:8794200-8801000	Enhancers	Pancreas	Pancrea
31	chr11:8794200-8803000	Enhancers	Left Ventricle	heart
32	chr11:8794400-8798200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:8794600-8796600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:8794600-8797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:8794600-8803000	Enhancers	Right Ventricle	heart
36	chr11:8794800-8797800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:8795000-8797000	Weak transcription	Aorta	Aorta
38	chr11:8795000-8797000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:8795000-8799600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:8795000-8801400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:8795200-8796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:8795200-8796800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:8795200-8797000	Weak transcription	Placenta	Placenta
45	chr11:8795200-8798000	Enhancers	Esophagus	oesophagus
46	chr11:8795200-8799000	Weak transcription	Fetal Lung	lung
47	chr11:8795200-8799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:8795200-8799400	Weak transcription	Brain Anterior Caudate	brain
49	chr11:8795200-8799400	Weak transcription	NH-A	brain
50	chr11:8795200-8799400	Weak transcription	Osteobl	bone

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