Variant report

Variant	rs72559406
Chromosome Location	chr17:67138470-67138471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:67137535-67138914	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF12	chr17:67138468-67139001	SK-N-SH	brain:	n/a	n/a
3	TBP	chr17:67138426-67138542	K562	blood:	n/a	n/a
4	POLR2A	chr17:67137623-67138921	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr17:67137691-67138959	HUVEC	blood vessel:	n/a	n/a
6	STAT3	chr17:67137801-67138896	MCF10A-Er-Src	breast:	n/a	chr17:67138265-67138273

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67138378..67141973-chr17:67143185..67146328,3	K562	blood:

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000154263	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10512522	1.00[EUR][1000 genomes]
rs10512524	1.00[EUR][1000 genomes]
rs10512525	1.00[EUR][1000 genomes]
rs12103695	1.00[EUR][1000 genomes]
rs12103736	1.00[EUR][1000 genomes]
rs13342218	1.00[EUR][1000 genomes]
rs16973507	1.00[EUR][1000 genomes]
rs16973508	1.00[EUR][1000 genomes]
rs16973511	1.00[EUR][1000 genomes]
rs16973554	1.00[EUR][1000 genomes]
rs16973575	1.00[EUR][1000 genomes]
rs2058128	1.00[EUR][1000 genomes]
rs28579127	1.00[EUR][1000 genomes]
rs28777976	1.00[EUR][1000 genomes]
rs28851500	1.00[EUR][1000 genomes]
rs3863518	1.00[EUR][1000 genomes]
rs4968991	1.00[EUR][1000 genomes]
rs58968107	1.00[EUR][1000 genomes]
rs61744800	1.00[EUR][1000 genomes]
rs7208773	1.00[EUR][1000 genomes]
rs7216483	1.00[EUR][1000 genomes]
rs7216499	1.00[EUR][1000 genomes]
rs7220968	1.00[EUR][1000 genomes]
rs7222660	1.00[EUR][1000 genomes]
rs7224786	1.00[EUR][1000 genomes]
rs73354278	1.00[EUR][1000 genomes]
rs73998235	1.00[EUR][1000 genomes]
rs8065592	1.00[EUR][1000 genomes]
rs8076805	1.00[EUR][1000 genomes]
rs8081075	1.00[EUR][1000 genomes]
rs9889750	1.00[EUR][1000 genomes]
rs9890027	1.00[EUR][1000 genomes]
rs9890160	1.00[EUR][1000 genomes]
rs9890600	1.00[EUR][1000 genomes]
rs9890654	1.00[EUR][1000 genomes]
rs9892453	1.00[EUR][1000 genomes]
rs9893173	1.00[EUR][1000 genomes]
rs9894894	1.00[EUR][1000 genomes]
rs9895934	1.00[EUR][1000 genomes]
rs9899675	1.00[EUR][1000 genomes]
rs9899818	1.00[EUR][1000 genomes]
rs9900211	1.00[EUR][1000 genomes]
rs9901117	1.00[EUR][1000 genomes]
rs9901228	1.00[EUR][1000 genomes]
rs9902715	1.00[EUR][1000 genomes]
rs9908650	1.00[EUR][1000 genomes]
rs9910224	1.00[EUR][1000 genomes]
rs9913052	1.00[EUR][1000 genomes]
rs9914407	1.00[EUR][1000 genomes]
rs9915531	1.00[EUR][1000 genomes]
rs9916254	1.00[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv575930	chr17:67120025-67212031	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
2	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
3	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:67127000-67143400	Weak transcription	Fetal Intestine Large	intestine
6	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:67130600-67146200	Weak transcription	Lung	lung
8	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:67133800-67145600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67134400-67143400	Weak transcription	Left Ventricle	heart
11	chr17:67134600-67145000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:67136200-67138800	Active TSS	Ovary	ovary
13	chr17:67136200-67138800	Active TSS	Right Atrium	heart
14	chr17:67136200-67139000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:67136400-67138800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:67136600-67138600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr17:67136600-67138800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:67136600-67138800	Active TSS	Fetal Lung	lung
19	chr17:67136800-67138800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:67136800-67138800	Active TSS	Stomach Smooth Muscle	stomach
21	chr17:67137200-67138600	Active TSS	Brain Substantia Nigra	brain
22	chr17:67137400-67138600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr17:67137400-67138600	Flanking Active TSS	Osteobl	bone
24	chr17:67137600-67138600	Active TSS	Brain Anterior Caudate	brain
25	chr17:67137600-67138600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr17:67137600-67138600	Flanking Active TSS	HUVEC	blood vessel
27	chr17:67137600-67139000	Enhancers	HepG2	liver
28	chr17:67137600-67139200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr17:67137800-67138800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:67137800-67138800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:67137800-67138800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr17:67137800-67138800	Enhancers	HMEC	breast
33	chr17:67137800-67141200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr17:67137800-67141400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr17:67138000-67138600	Enhancers	Stomach Mucosa	stomach
36	chr17:67138000-67138600	Enhancers	Hela-S3	cervix
37	chr17:67138000-67138800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr17:67138000-67138800	Flanking Active TSS	Liver	Liver
39	chr17:67138000-67138800	Enhancers	Small Intestine	intestine
40	chr17:67138000-67138800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr17:67138000-67139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:67138000-67154000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:67138200-67138800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr17:67138200-67139200	Weak transcription	Fetal Stomach	stomach
45	chr17:67138200-67143400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:67138200-67150600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:67138200-67151200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:67138200-67151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:67138200-67152200	Weak transcription	Fetal Muscle Leg	muscle
50	chr17:67138400-67138800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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