Variant report

Variant	rs11054085
Chromosome Location	chr12:11115432-11115433
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1044682	0.81[AFR][1000 genomes]
rs1044683	0.81[AFR][1000 genomes]
rs10772393	0.81[AFR][1000 genomes]
rs10772394	0.81[AFR][1000 genomes]
rs10845252	0.81[AFR][1000 genomes]
rs10845253	0.81[AFR][1000 genomes]
rs10845254	0.81[AFR][1000 genomes]
rs10845256	0.81[AFR][1000 genomes]
rs10845260	0.80[AFR][1000 genomes]
rs10845261	0.80[AFR][1000 genomes]
rs11054086	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11054087	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054088	0.82[AFR][1000 genomes]
rs11054089	0.81[AFR][1000 genomes]
rs11054090	0.81[AFR][1000 genomes]
rs11054092	0.81[AFR][1000 genomes]
rs11054093	0.81[AFR][1000 genomes]
rs11054094	0.81[AFR][1000 genomes]
rs11054095	0.81[AFR][1000 genomes]
rs11054097	0.81[AFR][1000 genomes]
rs11054098	0.81[AFR][1000 genomes]
rs11054099	0.81[AFR][1000 genomes]
rs11054102	0.81[AFR][1000 genomes]
rs11054115	0.83[AFR][1000 genomes]
rs11054116	0.82[AFR][1000 genomes]
rs11054123	0.80[AFR][1000 genomes]
rs11054124	0.80[AFR][1000 genomes]
rs11054125	0.80[AFR][1000 genomes]
rs17743605	0.81[AFR][1000 genomes]
rs17810798	0.81[AFR][1000 genomes]
rs4763232	0.81[AFR][1000 genomes]
rs4763599	0.81[AFR][1000 genomes]
rs6488332	0.80[AFR][1000 genomes]
rs7138360	0.80[AFR][1000 genomes]
rs7308469	0.81[AFR][1000 genomes]
rs7312169	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1804419	chr12:11103505-11149830	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898778	chr12:11108281-11165394	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11054085	RP11-434C1.1	cis	lung	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11095200-11148800	Weak transcription	HepG2	liver
2	chr12:11095600-11121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:11100800-11134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11102000-11121200	Weak transcription	Gastric	stomach
5	chr12:11102000-11122600	Weak transcription	Spleen	Spleen
6	chr12:11102000-11127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:11102000-11135600	Weak transcription	Aorta	Aorta
8	chr12:11105600-11121200	Weak transcription	Left Ventricle	heart
9	chr12:11105600-11121200	Weak transcription	Psoas Muscle	Psoas
10	chr12:11106000-11121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:11106400-11121200	Weak transcription	Placenta	Placenta
12	chr12:11108800-11126000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:11110000-11128600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:11110200-11120000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:11110600-11127200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:11111400-11116000	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:11111400-11123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:11111600-11121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:11111800-11142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:11113600-11120000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:11113800-11127000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:11114000-11118200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:11114000-11134000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:11114000-11149200	Weak transcription	GM12878-XiMat	blood
25	chr12:11114200-11131600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:11114200-11134200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:11114400-11121200	Weak transcription	Lung	lung
28	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:11114600-11120000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:11114600-11121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:11114600-11121200	Weak transcription	Pancreas	Pancrea
32	chr12:11114600-11129600	Weak transcription	Primary T cells from cord blood	blood
33	chr12:11114600-11135400	Weak transcription	Dnd41	blood
34	chr12:11114600-11142800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:11114600-11146400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:11114600-11146800	Weak transcription	Ovary	ovary
37	chr12:11114800-11123400	Weak transcription	Fetal Intestine Small	intestine

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