Variant report

Variant	rs73354278
Chromosome Location	chr17:67129545-67129546
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67127632..67130714-chr17:67132413..67134421,3	K562	blood:
2	chr17:67124204..67127688-chr17:67128556..67131648,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10512522	1.00[EUR][1000 genomes]
rs10512524	1.00[EUR][1000 genomes]
rs10512525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579127	1.00[EUR][1000 genomes]
rs28777976	1.00[EUR][1000 genomes]
rs28851500	1.00[EUR][1000 genomes]
rs3863518	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4968991	1.00[EUR][1000 genomes]
rs58968107	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744800	1.00[EUR][1000 genomes]
rs7216483	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7216499	1.00[EUR][1000 genomes]
rs7220968	1.00[EUR][1000 genomes]
rs7222660	1.00[EUR][1000 genomes]
rs72559406	1.00[EUR][1000 genomes]
rs73998235	1.00[EUR][1000 genomes]
rs8065592	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];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	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9890600	1.00[EUR][1000 genomes]
rs9890654	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9892453	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];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[AMR][1000 genomes];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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915531	1.00[EUR][1000 genomes]
rs9916254	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
6	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
7	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
8	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
12	chr17:67106400-67131400	Weak transcription	Left Ventricle	heart
13	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
14	chr17:67115600-67134000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:67115800-67130600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr17:67117800-67130400	Weak transcription	Ovary	ovary
17	chr17:67119000-67131000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:67119600-67131600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:67120000-67138000	Weak transcription	Small Intestine	intestine
20	chr17:67121800-67137800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:67123800-67136400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:67124200-67130200	Weak transcription	NHDF-Ad	bronchial
23	chr17:67124600-67137600	Weak transcription	Fetal Stomach	stomach
24	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:67127000-67143400	Weak transcription	Fetal Intestine Large	intestine
26	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:67127200-67131400	Weak transcription	Fetal Lung	lung
28	chr17:67127200-67138000	Weak transcription	Stomach Mucosa	stomach
29	chr17:67127600-67137800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:67128200-67134400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:67128200-67137200	Weak transcription	Brain Substantia Nigra	brain
32	chr17:67128400-67134000	Strong transcription	Adipose Nuclei	Adipose
33	chr17:67128800-67133600	Strong transcription	Liver	Liver
34	chr17:67129000-67131400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:67129000-67134400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr17:67129200-67132200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:67129400-67129600	Active TSS	Lung	lung
38	chr17:67129400-67133800	Weak transcription	Aorta	Aorta

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