Variant report

Variant	rs451252
Chromosome Location	chr7:107738948-107738949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107736265..107740487-chr7:107741777..107745446,6	K562	blood:
2	chr7:107738530..107740733-chr7:107749909..107751465,2	K562	blood:
3	chr7:107568811..107571105-chr7:107736438..107738965,2	K562	blood:
4	chr7:107737719..107739319-chr7:107743143..107745018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091136	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1735499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs366690	0.92[EUR][1000 genomes]
rs367538	0.88[TSI][hapmap]
rs369505	0.89[EUR][1000 genomes]
rs369508	0.89[EUR][1000 genomes]
rs370495	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs370533	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs371024	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs377007	0.90[EUR][1000 genomes]
rs377661	0.90[EUR][1000 genomes]
rs378334	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs378641	0.88[TSI][hapmap]
rs378962	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs379821	0.89[EUR][1000 genomes]
rs387981	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs399290	0.84[EUR][1000 genomes]
rs399882	0.89[EUR][1000 genomes]
rs401066	0.80[CEU][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs401145	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs401487	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs402113	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs402264	0.92[ASW][hapmap];0.81[LWK][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs403731	0.84[CEU][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs405239	0.89[EUR][1000 genomes]
rs405869	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs409815	0.84[CEU][hapmap];0.81[LWK][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs410286	0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs410866	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs411396	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs413412	0.84[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs416811	0.84[EUR][1000 genomes]
rs418255	0.81[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs419031	0.95[MKK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs420753	0.92[ASW][hapmap];0.81[LWK][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs424866	0.84[EUR][1000 genomes]
rs425623	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs426812	0.84[AFR][1000 genomes]
rs429252	0.92[ASW][hapmap];0.81[LWK][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs430995	0.88[TSI][hapmap]
rs433534	0.89[TSI][hapmap]
rs435125	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs435361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs435522	0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs435744	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs436573	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs440938	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs445661	0.90[EUR][1000 genomes]
rs446566	0.81[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs446800	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs448342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs448559	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs448742	0.88[TSI][hapmap]
rs448833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730287	0.82[CHB][hapmap]
rs6974722	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs985152	0.92[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs451252	LHFPL3	cis	parietal	SCAN
rs451252	DOCK4	cis	cerebellum	SCAN
rs451252	SRPK2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107732400-107739600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:107734800-107739800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:107736000-107739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:107736200-107744600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:107736200-107753400	Weak transcription	Right Atrium	heart
6	chr7:107736400-107740000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:107736400-107744200	Weak transcription	Osteobl	bone
8	chr7:107736400-107756400	Weak transcription	Pancreas	Pancrea
9	chr7:107736600-107739800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:107736600-107742800	Weak transcription	K562	blood
11	chr7:107736600-107747400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:107736800-107739200	Enhancers	A549	lung
13	chr7:107736800-107739800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:107737000-107739600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:107737000-107744600	Weak transcription	Fetal Lung	lung
16	chr7:107737200-107739400	Weak transcription	Fetal Stomach	stomach
17	chr7:107737400-107739200	Weak transcription	NHDF-Ad	bronchial
18	chr7:107737800-107740400	Weak transcription	Fetal Kidney	kidney
19	chr7:107737800-107742400	Weak transcription	HepG2	liver
20	chr7:107738800-107739000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:107738800-107740000	Enhancers	Placenta	Placenta
22	chr7:107738800-107740200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:107738800-107740200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:107738800-107741200	Enhancers	NHLF	lung

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