Variant report

Variant	rs11063101
Chromosome Location	chr12:4466403-4466404
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1046161	0.89[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12422543	0.81[CEU][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7962818	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv528492	chr12:4462161-4473329	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv523578	chr12:4462505-4467921	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11063101	C3AR1	cis	cerebellum	SCAN
rs11063101	FOXJ2	cis	parietal	SCAN
rs11063101	C12orf5	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4461800-4467800	Weak transcription	NHEK	skin
2	chr12:4462000-4467400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:4462200-4466800	Weak transcription	NHLF	lung
4	chr12:4462200-4467000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:4462200-4468000	Weak transcription	Fetal Brain Female	brain
6	chr12:4462600-4467000	Weak transcription	HSMM	muscle
7	chr12:4462600-4468000	Weak transcription	Primary B cells from cord blood	blood
8	chr12:4462800-4467800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:4462800-4467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:4462800-4467800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:4462800-4468200	Weak transcription	GM12878-XiMat	blood
12	chr12:4463000-4467600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:4463000-4467800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:4463000-4467800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:4463600-4467800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:4463800-4466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:4463800-4468000	Weak transcription	HMEC	breast
18	chr12:4464000-4468600	Weak transcription	HUVEC	blood vessel
19	chr12:4464000-4469200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:4464800-4466800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:4464800-4468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:4465000-4467400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:4465200-4467000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:4465200-4488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:4465400-4474400	Weak transcription	Right Atrium	heart
26	chr12:4465400-4475200	Weak transcription	Gastric	stomach
27	chr12:4465800-4467800	Weak transcription	A549	lung

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