Variant report

Variant	rs11613048
Chromosome Location	chr12:30353975-30353976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN11-5	chr12:30353916-30354041	ENSG00000257262

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12810698	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12826253	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1973268	0.89[EUR][1000 genomes]
rs6487883	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6487885	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7966500	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1050921	chr12:30334940-30409475	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30353400-30354200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
2	chr12:30353400-30354800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:30353600-30354000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:30353600-30354000	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr12:30353600-30354200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:30353600-30354600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:30353600-30354600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:30353600-30354600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:30353600-30354600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr12:30353600-30354600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr12:30353600-30354600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:30353600-30354800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr12:30353600-30354800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:30353600-30354800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:30353800-30354000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:30353800-30354000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:30353800-30354000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:30353800-30354000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:30353800-30354000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:30353800-30354000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:30353800-30354000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:30353800-30354000	Flanking Active TSS	Liver	Liver
23	chr12:30353800-30354000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr12:30353800-30354000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
25	chr12:30353800-30354000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
26	chr12:30353800-30354000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr12:30353800-30354000	Enhancers	Gastric	stomach
28	chr12:30353800-30354000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
29	chr12:30353800-30354000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr12:30353800-30354200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:30353800-30354200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:30353800-30354200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr12:30353800-30354200	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr12:30353800-30354200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr12:30353800-30354200	Enhancers	Stomach Mucosa	stomach
36	chr12:30353800-30354200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:30353800-30354200	Bivalent/Poised TSS	Thymus	Thymus
38	chr12:30353800-30354200	Bivalent Enhancer	HMEC	breast
39	chr12:30353800-30354200	Bivalent/Poised TSS	HUVEC	blood vessel
40	chr12:30353800-30354400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:30353800-30354400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
42	chr12:30353800-30354400	Active TSS	Brain Anterior Caudate	brain
43	chr12:30353800-30354400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:30353800-30354400	Bivalent Enhancer	Fetal Lung	lung
45	chr12:30353800-30354400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr12:30353800-30354400	Active TSS	Ovary	ovary
47	chr12:30353800-30354400	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr12:30353800-30354400	Flanking Active TSS	Right Atrium	heart
49	chr12:30353800-30354600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:30353800-30354600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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