Variant report

Variant	rs1015572
Chromosome Location	chr7:139586258-139586259
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139584185..139586442-chr7:139614937..139617352,2	K562	blood:
2	chr7:139584307..139586410-chr7:139592665..139594702,2	K562	blood:
3	chr7:139584736..139586654-chr7:139664215..139666057,2	K562	blood:
4	chr7:139583780..139588622-chr7:139595731..139600740,4	K562	blood:
5	chr7:139583885..139586800-chr7:139665999..139667812,2	K562	blood:
6	chr7:139586016..139588957-chr7:139628556..139630300,2	K562	blood:
7	chr7:139586200..139588625-chr7:139589676..139591691,2	K562	blood:
8	chr7:139579614..139583273-chr7:139583440..139586485,4	K562	blood:
9	chr7:139584778..139587285-chr7:139587311..139589455,2	K562	blood:

No data

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2267697	1.00[CEU][hapmap]
rs2267698	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs3801154	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6464450	1.00[CEU][hapmap]
rs6464451	1.00[CEU][hapmap]
rs6952982	1.00[CEU][hapmap]
rs6965165	1.00[CEU][hapmap]
rs7805971	1.00[CEU][hapmap]
rs8192813	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv608474	chr7:139579177-139586807	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv889244	chr7:139579177-139607500	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1015572	MMP20	trans	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139567400-139598400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139570000-139587800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:139571200-139596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139573600-139586600	Weak transcription	Right Atrium	heart
5	chr7:139573800-139597600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:139577000-139593800	Weak transcription	Lung	lung
7	chr7:139577000-139612400	Weak transcription	Thymus	Thymus
8	chr7:139580200-139588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:139583200-139589000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:139583600-139587000	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:139583800-139586600	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:139584000-139586600	Enhancers	Fetal Kidney	kidney
13	chr7:139584400-139587400	Weak transcription	K562	blood
14	chr7:139584600-139587400	Weak transcription	Stomach Mucosa	stomach
15	chr7:139584600-139587800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:139584800-139587000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:139584800-139589400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:139584800-139593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:139585000-139586600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:139585000-139588000	Weak transcription	Spleen	Spleen
21	chr7:139585000-139593000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:139585000-139593800	Weak transcription	Gastric	stomach
23	chr7:139585600-139586800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:139585800-139586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:139585800-139586800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:139585800-139586800	Enhancers	Fetal Thymus	thymus
27	chr7:139585800-139587000	Enhancers	GM12878-XiMat	blood
28	chr7:139585800-139587000	Enhancers	HMEC	breast
29	chr7:139586000-139586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:139586000-139586800	Enhancers	NHEK	skin
31	chr7:139586000-139587000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:139586200-139586800	Enhancers	Fetal Intestine Small	intestine
33	chr7:139586200-139587600	Genic enhancers	Monocytes-CD14+_RO01746	blood

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