Variant report

Variant	rs2021315
Chromosome Location	chr6:132149254-132149255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132127756..132130246-chr6:132148008..132150797,2	MCF-7	breast:
2	chr6:132144090..132145883-chr6:132147626..132149408,2	K562	blood:
3	chr6:132128149..132132112-chr6:132147030..132152072,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10457576	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs12191120	0.86[ASN][1000 genomes]
rs12201710	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs1800949	0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs2327173	0.86[ASN][1000 genomes]
rs4418212	0.84[EUR][1000 genomes]
rs6939185	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71572984	0.88[ASN][1000 genomes]
rs766592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap]
rs7756163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7771242	0.89[ASN][1000 genomes]
rs7771841	0.82[CHB][hapmap];0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs858335	0.83[ASN][1000 genomes]
rs858339	0.82[ASN][1000 genomes]
rs943003	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9493103	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2021315	SLC46A2	trans	cerebellum	SCAN
rs2021315	ENPP3	cis	parietal	SCAN
rs2021315	ENPP1	cis	parietal	SCAN
rs2021315	ENPP1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132132200-132157800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:132132800-132162400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:132132800-132162800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:132136800-132160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:132138600-132163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:132141000-132176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:132141200-132152000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:132141200-132158000	Weak transcription	Aorta	Aorta
9	chr6:132141600-132151600	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:132141600-132172000	Weak transcription	HSMM	muscle
11	chr6:132143200-132157800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:132144200-132149600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:132145000-132149800	Weak transcription	Fetal Thymus	thymus
14	chr6:132145600-132150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:132145800-132171800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:132147400-132152200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:132147600-132151600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:132147600-132199200	Weak transcription	Fetal Stomach	stomach
19	chr6:132148000-132150800	Weak transcription	Pancreas	Pancrea
20	chr6:132148000-132152000	Weak transcription	Osteobl	bone
21	chr6:132148000-132152200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:132148200-132151200	Strong transcription	HepG2	liver
23	chr6:132148400-132149600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:132148600-132150000	Weak transcription	Fetal Kidney	kidney
25	chr6:132148600-132152400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:132148800-132149400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:132148800-132149600	Enhancers	Liver	Liver
28	chr6:132148800-132150000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:132148800-132150000	Enhancers	Placenta	Placenta
30	chr6:132149000-132149400	Enhancers	NHDF-Ad	bronchial
31	chr6:132149000-132149800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:132149000-132149800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:132149000-132149800	Enhancers	Ovary	ovary
34	chr6:132149000-132150400	Enhancers	Adipose Nuclei	Adipose
35	chr6:132149000-132150600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:132149200-132149400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:132149200-132149600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:132149200-132149800	Enhancers	NHLF	lung
39	chr6:132149200-132150000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:132149200-132150200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:132149200-132161800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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