Variant report

Variant	rs11180517
Chromosome Location	chr12:75832068-75832069
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75830822..75834830-chr12:75837782..75839955,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10785191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10879914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10879921	0.88[ASN][1000 genomes]
rs11180516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180523	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180529	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12305941	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102134	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34217466	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4479027	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4882599	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11180517	GLIPR1L2	cis	lung	GTEx
rs11180517	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs11180517	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs11180517	GLIPR1L2	cis	Thyroid	GTEx
rs11180517	GLIPR1L2	cis	Artery Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75831200-75832600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:75831400-75832400	Enhancers	Placenta	Placenta
3	chr12:75831400-75832800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:75831400-75832800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:75831400-75832800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:75831400-75833200	Enhancers	HMEC	breast
7	chr12:75831400-75834800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:75831600-75832200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:75831600-75832200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:75831600-75832400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:75831600-75832400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:75831600-75832400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:75831600-75832600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:75831600-75832600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:75831600-75832800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:75831600-75833000	Enhancers	Fetal Thymus	thymus
17	chr12:75831600-75833000	Enhancers	NHEK	skin
18	chr12:75831800-75832400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:75831800-75832600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:75831800-75832800	Enhancers	Thymus	Thymus
21	chr12:75831800-75834400	Enhancers	Osteobl	bone
22	chr12:75832000-75832200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:75832000-75832200	Flanking Active TSS	Dnd41	blood
24	chr12:75832000-75832400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:75832000-75832400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:75832000-75832400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:75832000-75832600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:75832000-75832600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:75832000-75832800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:75832000-75834400	Enhancers	Muscle Satellite Cultured Cells	--

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