Variant report

Variant	rs28620744
Chromosome Location	chr17:67088534-67088535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr17:67088488-67088655	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr17:67088153-67088612	K562	blood:	n/a	n/a
3	JUN	chr17:67088467-67088874	K562	blood:	n/a	n/a
4	EP300	chr17:67088355-67090318	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:67043107..67046503-chr17:67087487..67090701,3	K562	blood:
2	chr17:67087380..67090007-chr17:67103818..67105746,2	K562	blood:
3	chr17:67083309..67086380-chr17:67087124..67091050,4	K562	blood:
4	chr17:67074921..67077077-chr17:67087340..67089647,2	K562	blood:
5	chr17:67088137..67090811-chr17:67098460..67099975,2	K562	blood:
6	chr17:67083309..67086941-chr17:67087664..67091050,5	K562	blood:
7	chr17:67087494..67092191-chr17:67094325..67097858,5	K562	blood:
8	chr17:67088212..67090645-chr17:67172453..67175365,2	K562	blood:
9	chr17:67072787..67074719-chr17:67087399..67089601,2	K562	blood:

No data

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000154262	Chromatin interaction
ENSG00000265331	Chromatin interaction
ENSG00000154258	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28524118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34498359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34831728	1.00[AMR][1000 genomes]
rs9895065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9895692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9912654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9915805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1066998	chr17:67060038-67090475	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	esv2556464	chr17:67086916-67088573	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3412214	chr17:67086932-67089005	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67065600-67088600	Weak transcription	Pancreas	Pancrea
2	chr17:67067200-67099600	Weak transcription	Gastric	stomach
3	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
5	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:67079400-67090600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:67079400-67093600	Weak transcription	Fetal Stomach	stomach
9	chr17:67079400-67095600	Weak transcription	Psoas Muscle	Psoas
10	chr17:67079400-67112200	Strong transcription	Liver	Liver
11	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
13	chr17:67079600-67091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
16	chr17:67080800-67088600	Weak transcription	GM12878-XiMat	blood
17	chr17:67080800-67090800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
19	chr17:67081200-67088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:67081200-67090800	Weak transcription	Fetal Muscle Leg	muscle
21	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:67081400-67089400	Weak transcription	Ovary	ovary
23	chr17:67081400-67090400	Weak transcription	Left Ventricle	heart
24	chr17:67081400-67095000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
26	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:67083800-67090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:67084200-67089000	Weak transcription	Adipose Nuclei	Adipose
29	chr17:67085600-67088600	Weak transcription	Fetal Lung	lung
30	chr17:67085800-67099600	Weak transcription	Lung	lung
31	chr17:67087000-67089600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:67087800-67089200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr17:67088000-67089000	Transcr. at gene 5' and 3'	K562	blood
36	chr17:67088000-67089200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:67088200-67089000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:67088400-67089000	Enhancers	Primary B cells from cord blood	blood
39	chr17:67088400-67089800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr17:67088400-67090600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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