Variant report

Variant	rs1280370
Chromosome Location	chr15:57787992-57787993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57777677..57780127-chr15:57786834..57789579,2	K562	blood:
2	chr15:57785599..57788871-chr15:57789912..57793304,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10518922	1.00[ASN][1000 genomes]
rs11632868	1.00[ASN][1000 genomes]
rs1280380	1.00[ASN][1000 genomes]
rs12898542	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290243	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1296301	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1511949	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17239707	1.00[ASN][1000 genomes]
rs17820365	1.00[ASN][1000 genomes]
rs1908188	1.00[ASN][1000 genomes]
rs2201346	1.00[ASN][1000 genomes]
rs2922227	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2932198	0.96[CEU][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs2934444	1.00[ASN][1000 genomes]
rs2942033	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774951	1.00[ASN][1000 genomes]
rs57799543	1.00[ASN][1000 genomes]
rs62000313	1.00[ASN][1000 genomes]
rs72739761	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2751536	chr15:57627408-57788408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv457170	chr15:57644456-57790436	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv569588	chr15:57644456-57790436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2763103	chr15:57781577-57799765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1280370	DMXL2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57771000-57795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:57778200-57798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:57778600-57789000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:57779000-57788600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:57779000-57789000	Weak transcription	Esophagus	oesophagus
6	chr15:57779000-57794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:57779000-57794400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:57779000-57797600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:57779000-57798200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:57779200-57788600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:57779400-57794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:57786600-57790000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:57786800-57788000	Enhancers	Primary B cells from peripheral blood	blood
15	chr15:57786800-57788000	Enhancers	Fetal Muscle Leg	muscle
16	chr15:57786800-57788000	Enhancers	GM12878-XiMat	blood
17	chr15:57786800-57789000	Enhancers	HepG2	liver
18	chr15:57786800-57790000	Enhancers	Right Ventricle	heart
19	chr15:57787000-57788200	Enhancers	HUVEC	blood vessel
20	chr15:57787000-57789200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:57787000-57790200	Enhancers	Fetal Intestine Large	intestine
22	chr15:57787000-57790400	Enhancers	Fetal Lung	lung
23	chr15:57787000-57791000	Enhancers	Pancreas	Pancrea
24	chr15:57787200-57788000	Enhancers	Primary B cells from cord blood	blood
25	chr15:57787200-57790600	Enhancers	Stomach Mucosa	stomach
26	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
27	chr15:57787400-57788400	Enhancers	Ovary	ovary
28	chr15:57787400-57788600	Enhancers	Fetal Kidney	kidney
29	chr15:57787400-57790000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr15:57787400-57790600	Enhancers	Fetal Intestine Small	intestine
31	chr15:57787400-57791000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:57787600-57788000	Enhancers	Fetal Stomach	stomach
33	chr15:57787600-57788200	Flanking Active TSS	Fetal Heart	heart
34	chr15:57787600-57788400	Weak transcription	Placenta	Placenta
35	chr15:57787600-57788400	Weak transcription	Gastric	stomach
36	chr15:57787600-57788400	Weak transcription	Lung	lung
37	chr15:57787600-57788400	Weak transcription	Right Atrium	heart
38	chr15:57787600-57788800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:57787600-57789000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:57787600-57790000	Enhancers	Liver	Liver
41	chr15:57787600-57793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:57787800-57788200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:57787800-57788200	Weak transcription	Left Ventricle	heart
44	chr15:57787800-57788800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:57787800-57789200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:57787800-57791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr15:57787800-57793200	Weak transcription	NHDF-Ad	bronchial

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