Variant report

Variant	rs11832772
Chromosome Location	chr12:42859588-42859589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42857420..42859847-chr12:42876771..42878949,2	K562	blood:
2	chr12:42858838..42861541-chr12:42866075..42868198,2	K562	blood:
3	chr12:42858889..42861856-chr12:42862365..42864970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1043652	0.81[CEU][hapmap]
rs1043656	0.81[CEU][hapmap]
rs12229266	0.81[CEU][hapmap]
rs12425945	0.85[JPT][hapmap]
rs3747562	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768398	0.81[CEU][hapmap]
rs7134130	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11832772	PPHLN1	cis	Artery Tibial	GTEx
rs11832772	PPHLN1	cis	multi-tissue	Pritchard

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
3	chr12:42834200-42859600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
5	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
6	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:42840400-42860800	Weak transcription	Colonic Mucosa	Colon
8	chr12:42840600-42860000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:42841400-42862000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:42841600-42862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:42843000-42862400	Weak transcription	Fetal Thymus	thymus
12	chr12:42843200-42862000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:42843600-42862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:42844800-42862600	Weak transcription	Primary T cells from cord blood	blood
15	chr12:42849400-42864800	Strong transcription	Fetal Stomach	stomach
16	chr12:42850000-42860800	Strong transcription	HSMMtube	muscle
17	chr12:42850000-42866400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:42850200-42859800	Strong transcription	Primary B cells from cord blood	blood
19	chr12:42850200-42860600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:42850200-42862800	Strong transcription	NH-A	brain
21	chr12:42850200-42865000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:42850200-42865000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:42850200-42865800	Strong transcription	Osteobl	bone
24	chr12:42850800-42860400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:42851400-42860800	Strong transcription	HSMM	muscle
26	chr12:42851800-42863000	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:42852000-42861400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:42852600-42862400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:42852800-42862800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:42853000-42862000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:42853400-42869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:42854000-42862400	Weak transcription	Brain Anterior Caudate	brain
33	chr12:42854000-42863600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:42854000-42865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:42854000-42868600	Weak transcription	Right Ventricle	heart
36	chr12:42854200-42865200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:42854200-42867400	Weak transcription	NHLF	lung
38	chr12:42854400-42864800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:42854400-42865200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:42854600-42864800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr12:42854800-42860600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:42855200-42864000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:42855400-42864000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:42855400-42865200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:42855800-42860600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:42856000-42860000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:42856200-42860200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr12:42856200-42860600	Strong transcription	Fetal Lung	lung
49	chr12:42856200-42865800	Strong transcription	HMEC	breast
50	chr12:42856400-42859600	Strong transcription	Fetal Intestine Large	intestine

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