Variant report

Variant	rs12287694
Chromosome Location	chr11:8813397-8813398
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	chr11:8811870..8814213-chr11:8819561..8821244,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10743086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10743090	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769961	0.84[CEU][hapmap]
rs10840119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840122	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840124	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042052	0.90[CEU][hapmap]
rs11042064	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042073	0.81[EUR][1000 genomes]
rs11042074	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12269980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12289240	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291552	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906037	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2316863	0.83[CEU][hapmap]
rs3763917	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3913547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4082668	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4370937	0.88[CEU][hapmap]
rs4929918	0.83[CEU][hapmap]
rs55902154	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60869409	0.94[EUR][1000 genomes]
rs6484007	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6484606	0.89[CEU][hapmap]
rs7105372	0.94[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7131166	0.88[CEU][hapmap]
rs72858278	0.83[EUR][1000 genomes];0.89[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12287694	TMEM9B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:8801000-8815600	Weak transcription	NHDF-Ad	bronchial
6	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
7	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
8	chr11:8801800-8814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:8802000-8816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:8802200-8819200	Weak transcription	NH-A	brain
11	chr11:8802800-8816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:8803000-8815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:8803000-8820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:8807600-8814000	Weak transcription	Fetal Lung	lung
15	chr11:8807600-8815200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:8807800-8814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:8808200-8815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:8808600-8814400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:8808600-8819400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:8808800-8816000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:8808800-8816200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:8809000-8813800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:8809000-8814000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:8809000-8815800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:8809000-8816000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:8809000-8816200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:8809000-8830200	Weak transcription	Fetal Brain Male	brain
28	chr11:8809200-8813800	Weak transcription	HepG2	liver
29	chr11:8809200-8814200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:8809200-8814400	Weak transcription	Adipose Nuclei	Adipose
31	chr11:8809200-8815600	Weak transcription	HSMM	muscle
32	chr11:8809200-8815800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:8809200-8816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:8809200-8826600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:8809200-8829200	Weak transcription	Fetal Kidney	kidney
36	chr11:8809400-8814200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:8809400-8814200	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:8809400-8815800	Weak transcription	Placenta	Placenta
39	chr11:8810000-8815800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:8810400-8815800	Weak transcription	Spleen	Spleen
41	chr11:8810400-8816200	Weak transcription	NHLF	lung
42	chr11:8810600-8814400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:8810600-8816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:8810600-8820600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:8811000-8813400	Enhancers	Stomach Mucosa	stomach
46	chr11:8811200-8814200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:8811200-8815000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:8811200-8815200	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:8811200-8815800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:8811800-8813600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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