Variant report

Variant	rs11054693
Chromosome Location	chr12:12260266-12260267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10845483	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824766	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2448032	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4763781	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4763782	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763784	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv976579	chr12:12253001-12266723	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528912	chr12:12253591-12266041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:12241000-12260600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:12241200-12261000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:12241800-12260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:12245600-12260400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:12245600-12260400	Weak transcription	Fetal Brain Female	brain
10	chr12:12245600-12260600	Weak transcription	Psoas Muscle	Psoas
11	chr12:12245800-12260400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:12245800-12260400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:12245800-12260600	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:12245800-12263800	Weak transcription	Pancreas	Pancrea
15	chr12:12245800-12266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:12246200-12260400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:12246200-12260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:12246400-12272000	Weak transcription	Osteobl	bone
19	chr12:12247600-12261400	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:12248200-12271800	Weak transcription	Fetal Kidney	kidney
21	chr12:12248400-12260800	Weak transcription	Hela-S3	cervix
22	chr12:12248400-12261000	Weak transcription	NH-A	brain
23	chr12:12250000-12261400	Weak transcription	Primary T cells from cord blood	blood
24	chr12:12250800-12260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:12251200-12260600	Weak transcription	Right Atrium	heart
26	chr12:12252400-12260400	Weak transcription	HSMM	muscle
27	chr12:12252400-12260800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:12252400-12260800	Weak transcription	Fetal Lung	lung
29	chr12:12252800-12276200	Weak transcription	Fetal Heart	heart
30	chr12:12253800-12261400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:12254800-12260800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:12257200-12260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:12257200-12262400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:12257400-12260400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:12257400-12260400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:12257400-12260400	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:12257400-12260400	Weak transcription	Lung	lung
38	chr12:12257400-12260600	Weak transcription	HSMMtube	muscle
39	chr12:12257600-12260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:12257600-12260400	Weak transcription	Liver	Liver
41	chr12:12257600-12260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:12257600-12261000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:12257800-12260400	Weak transcription	A549	lung
44	chr12:12258000-12260400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:12258200-12260600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:12258200-12274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:12259400-12260400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:12259800-12260400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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