Variant report

Variant	rs35088976
Chromosome Location	chr12:42474416-42474417
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42474170..42476425-chr12:42489656..42492488,2	K562	blood:
2	chr12:42473894..42476610-chr12:42483539..42485752,2	K562	blood:
3	chr12:42473894..42475644-chr12:42484252..42485777,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12831750	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17224156	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17801478	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17801484	0.82[AMR][1000 genomes]
rs2406565	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4581518	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975932	0.82[AMR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35088976	PRICKLE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42463800-42474600	Weak transcription	Left Ventricle	heart
2	chr12:42464600-42484000	Weak transcription	HSMM	muscle
3	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
4	chr12:42469400-42491800	Weak transcription	Ovary	ovary
5	chr12:42470400-42479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:42470600-42475000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:42470600-42476000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:42470800-42480000	Weak transcription	A549	lung
12	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
13	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42471200-42479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:42471200-42483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:42471800-42483400	Weak transcription	Fetal Stomach	stomach
18	chr12:42471800-42486600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
20	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:42473400-42475000	Weak transcription	Liver	Liver
23	chr12:42473400-42477400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:42473400-42477600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:42473400-42480200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:42473600-42479200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:42473600-42481000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:42473600-42483600	Weak transcription	Adipose Nuclei	Adipose
29	chr12:42473600-42484000	Weak transcription	HUVEC	blood vessel
30	chr12:42473600-42484200	Weak transcription	Primary T cells from cord blood	blood
31	chr12:42473800-42475800	Weak transcription	Primary B cells from cord blood	blood
32	chr12:42473800-42476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:42473800-42476000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:42473800-42484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:42474000-42479000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:42474000-42479400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:42474000-42484000	Weak transcription	NH-A	brain
38	chr12:42474000-42484200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:42474200-42479600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:42474200-42484000	Weak transcription	Osteobl	bone
42	chr12:42474200-42486000	Weak transcription	GM12878-XiMat	blood
43	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:42474400-42480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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