Variant report

Variant	rs17565212
Chromosome Location	chr7:111730179-111730180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111727544..111730183-chr7:111730698..111732624,2	MCF-7	breast:
2	chr7:111727653..111730337-chr7:111737903..111739641,2	K562	blood:
3	chr7:111726283..111728436-chr7:111728606..111730234,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10273234	1.00[ASN][1000 genomes]
rs10273453	1.00[ASN][1000 genomes]
rs11982254	1.00[ASN][1000 genomes]
rs1468207	1.00[ASN][1000 genomes]
rs17564870	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894634	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs35518766	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55963629	1.00[ASN][1000 genomes]
rs67863076	1.00[ASN][1000 genomes]
rs6969874	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73210921	1.00[ASN][1000 genomes]
rs73210924	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73210927	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73210929	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73210930	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785891	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791324	0.80[TSI][hapmap]
rs7805672	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808736	1.00[ASN][1000 genomes]
rs9649349	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17565212	DOCK4	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111713200-111742400	Weak transcription	Right Ventricle	heart
2	chr7:111720600-111753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:111721400-111737800	Weak transcription	NHEK	skin
4	chr7:111721400-111743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:111721600-111732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:111721600-111736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:111722200-111734800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:111722200-111736800	Weak transcription	Left Ventricle	heart
9	chr7:111722200-111736800	Weak transcription	Lung	lung
10	chr7:111724600-111746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:111725000-111731400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:111725000-111733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:111725000-111737000	Weak transcription	Right Atrium	heart
14	chr7:111725200-111730200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:111725200-111736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:111725200-111743000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:111726000-111730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:111727000-111731200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:111727000-111736400	Weak transcription	Ovary	ovary
20	chr7:111727000-111749000	Weak transcription	Pancreas	Pancrea
21	chr7:111727200-111730800	Weak transcription	Brain Anterior Caudate	brain
22	chr7:111727200-111731200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:111727200-111732200	Weak transcription	Brain Angular Gyrus	brain
24	chr7:111727400-111730800	Weak transcription	Fetal Lung	lung
25	chr7:111728000-111730800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:111728200-111731000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:111728200-111731600	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:111728200-111732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:111728800-111731000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:111728800-111736800	Weak transcription	Psoas Muscle	Psoas
31	chr7:111728800-111737400	Weak transcription	HUVEC	blood vessel
32	chr7:111729000-111730800	Weak transcription	Brain Substantia Nigra	brain
33	chr7:111729000-111730800	Weak transcription	A549	lung
34	chr7:111729200-111730200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:111729600-111730200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr7:111729600-111731600	Weak transcription	Liver	Liver
37	chr7:111729800-111730200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:111729800-111730200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:111729800-111731000	Weak transcription	HepG2	liver

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