Variant report

Variant	rs17637467
Chromosome Location	chr3:143048457-143048458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143047507..143050166-chr3:143127472..143129524,2	K562	blood:
2	chr3:142839696..142842108-chr3:143048440..143050143,2	K562	blood:
3	chr3:143047197..143050151-chr3:143065282..143067644,2	K562	blood:
4	chr3:143046217..143048916-chr3:143050759..143052463,2	K562	blood:
5	chr3:143043771..143046677-chr3:143047093..143049794,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10935489	0.82[TSI][hapmap]
rs1112189	0.84[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs12488603	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493473	0.84[EUR][1000 genomes]
rs17574671	0.81[EUR][1000 genomes]
rs17574746	0.83[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs17636943	0.94[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17638168	0.83[CHD][hapmap]
rs6768217	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs6799793	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73008231	0.87[EUR][1000 genomes]
rs7632299	0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17637467	ACAP3	trans	parietal	SCAN
rs17637467	ATP1B3	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143034400-143048600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:143045600-143050600	Enhancers	Fetal Lung	lung
3	chr3:143046600-143048600	Weak transcription	Adipose Nuclei	Adipose
4	chr3:143046600-143048600	Weak transcription	Brain Anterior Caudate	brain
5	chr3:143046600-143050000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:143046600-143050400	Enhancers	Fetal Kidney	kidney
7	chr3:143046600-143051800	Weak transcription	Dnd41	blood
8	chr3:143046600-143056200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:143046800-143048800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:143047200-143050800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:143047400-143049000	Enhancers	K562	blood
12	chr3:143047400-143049200	Enhancers	Spleen	Spleen
13	chr3:143047400-143050200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:143047400-143050200	Enhancers	Fetal Brain Female	brain
15	chr3:143047600-143049200	Enhancers	Fetal Thymus	thymus
16	chr3:143047600-143051200	Enhancers	NHDF-Ad	bronchial
17	chr3:143047800-143050800	Enhancers	Fetal Brain Male	brain
18	chr3:143048000-143048800	Enhancers	Brain Angular Gyrus	brain
19	chr3:143048000-143049000	Bivalent Enhancer	Placenta	Placenta
20	chr3:143048200-143048600	Enhancers	Brain Substantia Nigra	brain
21	chr3:143048200-143048600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr3:143048200-143049000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr3:143048200-143049000	Enhancers	Psoas Muscle	Psoas
24	chr3:143048200-143049200	Enhancers	Fetal Muscle Trunk	muscle
25	chr3:143048400-143048600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:143048400-143048600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:143048400-143048600	Enhancers	Brain Hippocampus Middle	brain
28	chr3:143048400-143048600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:143048400-143048600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr3:143048400-143048800	Enhancers	Esophagus	oesophagus
31	chr3:143048400-143048800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr3:143048400-143048800	Enhancers	Lung	lung
33	chr3:143048400-143049000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:143048400-143049000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:143048400-143049200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:143048400-143049200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:143048400-143049200	Enhancers	Ovary	ovary
38	chr3:143048400-143049400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:143048400-143049600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:143048400-143049600	Enhancers	Liver	Liver
41	chr3:143048400-143051200	Enhancers	Fetal Muscle Leg	muscle
42	chr3:143048400-143051200	Enhancers	HUVEC	blood vessel

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