Variant report

Variant	rs16906256
Chromosome Location	chr11:8887097-8887098
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	chr11:8885722..8888540-chr11:9189607..9191630,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10743091	0.84[EUR][1000 genomes]
rs10840135	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840137	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042097	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042098	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042104	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042106	0.85[MEX][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap]
rs11042108	0.80[YRI][hapmap]
rs11042115	1.00[YRI][hapmap]
rs11042116	1.00[YRI][hapmap]
rs11042118	1.00[YRI][hapmap]
rs11042148	0.90[MEX][hapmap]
rs1123936	0.83[JPT][hapmap]
rs12049908	0.95[YRI][hapmap]
rs12223690	0.80[YRI][hapmap]
rs12798322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1368017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1529641	0.82[JPT][hapmap]
rs1980428	0.83[JPT][hapmap]
rs2292049	0.95[CEU][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs2568025	0.84[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs2568031	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs2568032	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs2568043	0.82[JPT][hapmap]
rs2568045	0.83[JPT][hapmap]
rs2568061	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs2568065	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2568092	0.80[MEX][hapmap]
rs2653569	0.81[MEX][hapmap]
rs2742536	0.95[JPT][hapmap]
rs2742537	0.95[JPT][hapmap]
rs2742540	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2742545	0.95[JPT][hapmap]
rs2742552	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs34874636	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3763913	0.80[MEX][hapmap]
rs3815991	0.90[MEX][hapmap]
rs59025804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61876202	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7104661	0.80[YRI][hapmap]
rs7123429	0.95[JPT][hapmap]
rs7127479	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7948452	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs16906256	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs16906256	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs16906256	TMEM9B-AS1	cis	Esophagus Muscularis	GTEx
rs16906256	MMP26	cis	cerebellum	SCAN
rs16906256	TMEM9B-AS1	cis	lung	GTEx
rs16906256	CYB5R2	cis	parietal	SCAN
rs16906256	TMEM9B-AS1	cis	Thyroid	GTEx
rs16906256	DNHD1	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8862400-8888400	Weak transcription	Right Atrium	heart
2	chr11:8863200-8890400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:8864000-8888000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:8877400-8888600	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:8877400-8888600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:8878200-8891800	Weak transcription	Psoas Muscle	Psoas
7	chr11:8880200-8892000	Weak transcription	Gastric	stomach
8	chr11:8880400-8888000	Weak transcription	Stomach Mucosa	stomach
9	chr11:8880400-8888200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:8880400-8889200	Weak transcription	Lung	lung
11	chr11:8881400-8888200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:8884200-8887200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:8884200-8887200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:8884200-8887800	Enhancers	Hela-S3	cervix
15	chr11:8884200-8889600	Enhancers	NHDF-Ad	bronchial
16	chr11:8884400-8889000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:8884400-8891800	Weak transcription	Left Ventricle	heart
18	chr11:8885000-8887200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:8885000-8888200	Enhancers	NHLF	lung
20	chr11:8885200-8887400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:8885200-8889000	Enhancers	HUVEC	blood vessel
22	chr11:8885600-8888000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:8885600-8891400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:8885600-8891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:8885800-8887200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:8885800-8888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:8885800-8888400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:8885800-8888400	Weak transcription	A549	lung
29	chr11:8885800-8889600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:8885800-8889800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:8885800-8889800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:8885800-8891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:8885800-8891400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:8885800-8891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:8885800-8891800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:8886000-8888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:8886000-8888000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:8886000-8888200	Weak transcription	Small Intestine	intestine
39	chr11:8886000-8888200	Weak transcription	HSMM	muscle
40	chr11:8886000-8889400	Weak transcription	HSMMtube	muscle
41	chr11:8886000-8889600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:8886000-8889600	Weak transcription	Ovary	ovary
43	chr11:8886200-8888000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:8886200-8888000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:8886200-8888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:8886200-8888000	Weak transcription	Placenta	Placenta
47	chr11:8886200-8888000	Weak transcription	NH-A	brain
48	chr11:8886200-8889600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:8886200-8889600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:8886400-8887200	Enhancers	Adipose Nuclei	Adipose

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