Variant report

Variant	rs12433338
Chromosome Location	chr14:24821590-24821591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24820066..24821723-chr14:24836134..24837695,2	K562	blood:
2	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
3	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
4	chr14:24809738..24812373-chr14:24821553..24823093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100445	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100968	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10129435	0.84[ASN][1000 genomes]
rs10130279	0.86[ASN][1000 genomes]
rs10141054	0.86[ASN][1000 genomes]
rs10148620	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1109152	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1109153	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs11621904	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12050181	0.82[ASN][1000 genomes]
rs12050389	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431836	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12436194	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12436417	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12881276	0.95[ASN][1000 genomes]
rs2295300	0.84[ASW][hapmap]
rs2332325	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28393208	0.84[ASN][1000 genomes]
rs28457795	0.93[ASN][1000 genomes]
rs28575809	0.86[ASN][1000 genomes]
rs28637873	0.92[ASN][1000 genomes]
rs28695950	0.86[ASN][1000 genomes]
rs2877642	0.82[ASN][1000 genomes]
rs3181251	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3212242	0.84[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MKK][hapmap];0.90[ASN][1000 genomes]
rs3212243	0.84[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MKK][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3212260	0.86[ASN][1000 genomes]
rs7148384	0.84[ASW][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs8014112	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs882726	0.83[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs12433338	CMA1	cis	cerebellum	SCAN
rs12433338	RIPK3	cis	parietal	SCAN
rs12433338	GMPR2	cis	parietal	SCAN
rs12433338	NYNRIN	cis	cerebellum	SCAN
rs12433338	NFATC4	cis	cerebellum	SCAN
rs12433338	OSGEP	cis	parietal	SCAN
rs12433338	ADCY4	cis	multi-tissue	Pritchard
rs12433338	OR11H6	cis	parietal	SCAN
rs12433338	RABGGTA	cis	multi-tissue	Pritchard
rs12433338	ADCY4	cis	cerebellum	SCAN
rs12433338	DHRS1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24816600-24823000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:24818600-24824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:24820400-24824000	Enhancers	Osteobl	bone
4	chr14:24820600-24821600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:24820600-24821600	Enhancers	Fetal Kidney	kidney
6	chr14:24820600-24821600	Enhancers	HSMM	muscle
7	chr14:24820600-24821800	Enhancers	NHLF	lung
8	chr14:24820600-24823400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:24820600-24824800	Enhancers	NHDF-Ad	bronchial
10	chr14:24820800-24821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:24820800-24821600	Enhancers	Stomach Mucosa	stomach
12	chr14:24821000-24821600	Enhancers	Fetal Stomach	stomach
13	chr14:24821000-24822200	Weak transcription	Fetal Intestine Large	intestine
14	chr14:24821000-24823400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:24821200-24821600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:24821200-24821600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:24821200-24822400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:24821200-24822800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:24821200-24822800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:24821200-24823000	Weak transcription	Liver	Liver
21	chr14:24821200-24823000	Weak transcription	HMEC	breast
22	chr14:24821200-24823000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:24821200-24823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:24821200-24824000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:24821200-24824600	Weak transcription	Esophagus	oesophagus
26	chr14:24821200-24829200	Weak transcription	Placenta	Placenta
27	chr14:24821400-24821600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:24821400-24821800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:24821400-24822800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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