Variant report

Variant	rs378641
Chromosome Location	chr7:107722149-107722150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107719530..107722382-chr7:107729681..107732039,2	MCF-7	breast:
2	chr7:107721046..107722775-chr7:107733495..107735609,2	K562	blood:
3	chr7:107720738..107723216-chr7:107724069..107727011,3	K562	blood:
4	chr7:107721046..107723696-chr7:107732715..107735609,4	K562	blood:
5	chr7:107699191..107701387-chr7:107720831..107722439,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17155006	0.81[CEU][hapmap]
rs2108234	0.80[AFR][1000 genomes]
rs366690	0.80[EUR][1000 genomes]
rs367538	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs369505	0.88[CEU][hapmap]
rs369508	0.87[CEU][hapmap]
rs370495	0.80[EUR][1000 genomes]
rs376552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377007	0.88[CEU][hapmap]
rs378962	0.88[TSI][hapmap]
rs379821	0.88[CEU][hapmap]
rs380046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs382131	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs389486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs390547	0.81[CEU][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs397941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs399290	0.88[EUR][1000 genomes]
rs401066	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs401145	0.86[EUR][1000 genomes]
rs401487	0.88[ASW][hapmap];0.86[LWK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs402113	0.88[TSI][hapmap]
rs402264	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs403731	0.95[TSI][hapmap]
rs405239	0.89[CEU][hapmap]
rs408643	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs409815	0.88[TSI][hapmap]
rs410286	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs410866	0.88[TSI][hapmap]
rs416811	0.88[EUR][1000 genomes]
rs418255	0.92[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs419031	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs420753	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs423686	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]
rs424866	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs424978	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs425623	0.80[EUR][1000 genomes]
rs426812	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs429252	0.88[CEU][hapmap];0.88[TSI][hapmap]
rs430995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs433534	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs435125	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs435522	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs435744	0.80[EUR][1000 genomes]
rs436573	0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs437336	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs438114	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs446566	0.92[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs446800	0.80[EUR][1000 genomes]
rs448559	0.86[TSI][hapmap]
rs448742	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs450722	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451252	0.88[TSI][hapmap]
rs6974722	0.88[TSI][hapmap]
rs93619	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs94604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs985152	0.88[CEU][hapmap];0.80[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs378641	DOCK4	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107700800-107733600	Weak transcription	Pancreas	Pancrea
2	chr7:107718200-107722400	Enhancers	Small Intestine	intestine
3	chr7:107718400-107722200	Enhancers	Fetal Intestine Small	intestine
4	chr7:107718600-107722200	Enhancers	Fetal Intestine Large	intestine
5	chr7:107719800-107722400	Enhancers	HepG2	liver
6	chr7:107720200-107722200	Enhancers	NHLF	lung
7	chr7:107720400-107725000	Weak transcription	Ovary	ovary
8	chr7:107720600-107732000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:107720800-107724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:107721000-107724200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:107721000-107734400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:107721400-107722200	Enhancers	Adipose Nuclei	Adipose
13	chr7:107721400-107724000	Weak transcription	HUVEC	blood vessel
14	chr7:107721600-107722200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:107721600-107722400	ZNF genes & repeats	K562	blood
16	chr7:107721800-107724000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:107722000-107722200	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:107722000-107722400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:107722000-107724200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:107722000-107724400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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