Variant report

Variant	rs423686
Chromosome Location	chr7:107730749-107730750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107719784..107721782-chr7:107727829..107731774,3	K562	blood:
2	chr22:29202893..29204511-chr7:107730498..107733294,2	MCF-7	breast:
3	chr7:107729735..107732535-chr7:107733604..107735745,3	K562	blood:
4	chr7:107724804..107726471-chr7:107729180..107731938,2	MCF-7	breast:
5	chr7:107729546..107731523-chr7:107740327..107742242,2	K562	blood:
6	chr7:107401259..107403795-chr7:107728540..107730917,2	MCF-7	breast:
7	chr7:107719530..107722382-chr7:107729681..107732039,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs367538	0.85[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs376552	0.92[ASN][1000 genomes]
rs378641	0.85[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.92[ASN][1000 genomes]
rs380046	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs382131	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs389486	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs390547	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs397941	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403731	0.80[TSI][hapmap]
rs408643	0.91[ASN][1000 genomes]
rs424866	0.81[CEU][hapmap]
rs424978	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs426812	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430995	0.85[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs433534	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs437336	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs438114	0.91[ASN][1000 genomes]
rs448742	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.88[ASN][1000 genomes]
rs450722	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs93619	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs94604	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs423686	DOCK4	cis	cerebellum	SCAN
rs423686	LHFPL3	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107700800-107733600	Weak transcription	Pancreas	Pancrea
2	chr7:107720600-107732000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:107721000-107734400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:107724600-107734400	Weak transcription	Right Ventricle	heart
5	chr7:107726600-107735600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:107728000-107734400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:107728200-107733600	Weak transcription	NHDF-Ad	bronchial
8	chr7:107728400-107734400	Weak transcription	HSMMtube	muscle
9	chr7:107729000-107731400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:107729600-107731800	Weak transcription	HepG2	liver
11	chr7:107729600-107733200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:107729600-107734400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:107729800-107733200	Weak transcription	NHLF	lung
14	chr7:107729800-107734200	Weak transcription	HMEC	breast
15	chr7:107729800-107734400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:107730000-107731800	Weak transcription	A549	lung
17	chr7:107730200-107731200	Enhancers	K562	blood
18	chr7:107730200-107732200	Weak transcription	Placenta	Placenta
19	chr7:107730200-107733800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:107730200-107734600	Weak transcription	Fetal Intestine Small	intestine
21	chr7:107730400-107731600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:107730400-107734400	Weak transcription	Fetal Intestine Large	intestine

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