Variant report

Variant	rs11042097
Chromosome Location	chr11:8862844-8862845
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8854948..8856517-chr11:8861568..8863315,2	MCF-7	breast:
2	chr11:8850578..8853466-chr11:8861792..8863459,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10743091	0.92[EUR][1000 genomes]
rs10840135	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840137	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042098	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042104	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12798322	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1368017	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16906256	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2292049	0.90[EUR][1000 genomes]
rs2568025	0.81[EUR][1000 genomes]
rs2568031	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568032	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34874636	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59025804	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61876202	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7127479	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7948452	0.84[AMR][1000 genomes];0.87[ASN][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11042097	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs11042097	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs11042097	TMEM9B-AS1	cis	Thyroid	GTEx
rs11042097	TMEM9B-AS1	cis	Esophagus Muscularis	GTEx
rs11042097	TMEM9B-AS1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8859400-8864000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:8859600-8863000	Enhancers	Fetal Muscle Leg	muscle
3	chr11:8859800-8863200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:8859800-8863800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:8860000-8863200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:8860200-8863400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:8860600-8863600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:8860600-8864400	Weak transcription	Osteobl	bone
9	chr11:8861000-8863200	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:8861200-8863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:8861600-8863200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:8862000-8863600	Enhancers	HepG2	liver
13	chr11:8862000-8864600	Weak transcription	NHDF-Ad	bronchial
14	chr11:8862200-8863000	Enhancers	Stomach Smooth Muscle	stomach
15	chr11:8862200-8863400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:8862200-8881200	Weak transcription	Hela-S3	cervix
17	chr11:8862400-8863000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:8862400-8864800	Weak transcription	Fetal Stomach	stomach
19	chr11:8862400-8865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:8862400-8865000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:8862400-8865000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:8862400-8865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:8862400-8865200	Weak transcription	Pancreas	Pancrea
24	chr11:8862400-8867000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:8862400-8867800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:8862400-8867800	Weak transcription	Ovary	ovary
27	chr11:8862400-8868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:8862400-8868000	Weak transcription	Left Ventricle	heart
29	chr11:8862400-8870600	Weak transcription	Placenta	Placenta
30	chr11:8862400-8874600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:8862400-8880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:8862400-8880000	Weak transcription	Spleen	Spleen
33	chr11:8862400-8885000	Weak transcription	NHLF	lung
34	chr11:8862400-8888400	Weak transcription	Right Atrium	heart
35	chr11:8862600-8863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:8862600-8863000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:8862600-8863400	Weak transcription	HUVEC	blood vessel
38	chr11:8862600-8864000	Weak transcription	Fetal Lung	lung
39	chr11:8862600-8864400	Weak transcription	A549	lung
40	chr11:8862600-8865200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:8862600-8866400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:8862600-8867000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:8862600-8867800	Weak transcription	Brain Substantia Nigra	brain
44	chr11:8862600-8868400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:8862600-8868800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:8862600-8876600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:8862600-8885200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:8862800-8863200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:8862800-8865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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