Variant report

Variant	rs11613246
Chromosome Location	chr12:76035715-76035716
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	chr12:75953077..75955881-chr12:76035661..76037808,2	MCF-7	breast:
2	chr12:76032058..76036488-chr12:76038031..76041740,5	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11610227	0.86[AMR][1000 genomes]
rs12819985	1.00[AMR][1000 genomes]
rs12823143	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1480003	0.93[AMR][1000 genomes]
rs17818049	1.00[AMR][1000 genomes]
rs35181956	0.93[AMR][1000 genomes]
rs35182101	0.87[AMR][1000 genomes]
rs35499852	1.00[AMR][1000 genomes]
rs35611607	1.00[AMR][1000 genomes]
rs35642656	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67973847	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11613246	GLIPR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76032000-76035800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:76032400-76036800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:76032400-76037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:76032600-76036800	Enhancers	HMEC	breast
5	chr12:76032800-76036600	Enhancers	NHEK	skin
6	chr12:76033600-76036400	Enhancers	Dnd41	blood
7	chr12:76034000-76036400	Enhancers	A549	lung
8	chr12:76034200-76036600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:76034200-76036800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:76034400-76036400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:76034400-76036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:76034400-76036800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:76034400-76036800	Enhancers	NHDF-Ad	bronchial
14	chr12:76034600-76035800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:76034600-76035800	Enhancers	K562	blood
16	chr12:76034600-76036600	Enhancers	HSMMtube	muscle
17	chr12:76034600-76036800	Enhancers	HSMM	muscle
18	chr12:76034600-76037200	Enhancers	NH-A	brain
19	chr12:76034800-76035800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:76034800-76035800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:76034800-76036600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:76035200-76035800	Enhancers	NHLF	lung
23	chr12:76035400-76037200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:76035400-76038000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:76035400-76040200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:76035600-76036400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:76035600-76036800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:76035600-76036800	Enhancers	Osteobl	bone
29	chr12:76035600-76037800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:76035600-76038000	Enhancers	GM12878-XiMat	blood
31	chr12:76035600-76038400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:76035600-76039800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:76035600-76042400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:76035600-76044600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:76035600-76050400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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