Variant report

Variant	rs28688948
Chromosome Location	chr17:59491499-59491500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr17:59484276-59495088	A549	lung:	n/a	n/a
2	ZNF274	chr17:59491234-59491788	K562	blood:	n/a	n/a
3	MAX	chr17:59484138-59500997	MCF-7	breast:	n/a	chr17:59495541-59495552 chr17:59492978-59492987 chr17:59491213-59491223 chr17:59491485-59491495 chr17:59495570-59495581 chr17:59488910-59488926
4	SMC3	chr17:59485817-59492815	SK-N-SH	brain:	n/a	chr17:59488339-59488353 chr17:59491210-59491220 chr17:59488343-59488353
5	HDAC2	chr17:59482687-59495676	MCF-7	breast:	n/a	chr17:59487075-59487094 chr17:59495598-59495612 chr17:59495596-59495610 chr17:59495599-59495613 chr17:59495595-59495609 chr17:59494256-59494265 chr17:59492574-59492588

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59489649..59492493-chr3:119811877..119814556,2	MCF-7	breast:
2	chr17:57079759..57081712-chr17:59490275..59492386,2	MCF-7	breast:
3	chr17:59488630..59491909-chr20:52682988..52685576,3	MCF-7	breast:
4	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
5	chr17:59483268..59486484-chr17:59491273..59493392,3	K562	blood:
6	chr17:59489293..59491949-chr8:125051873..125054864,2	MCF-7	breast:
7	chr17:57916842..57918701-chr17:59490390..59492467,2	MCF-7	breast:
8	chr17:59491164..59492814-chr20:52697819..52700709,2	MCF-7	breast:
9	chr17:59489912..59492013-chr20:52685644..52687540,2	MCF-7	breast:
10	chr17:59490811..59493565-chr9:80089592..80091840,2	MCF-7	breast:
11	chr17:59488984..59491525-chr17:73774194..73776083,3	MCF-7	breast:
12	chr17:59489384..59491650-chr6:42749691..42752599,2	MCF-7	breast:
13	chr17:59490397..59493114-chr17:60868555..60870113,2	MCF-7	breast:
14	chr17:59490690..59492764-chr20:52480509..52482719,2	MCF-7	breast:
15	chr17:59488570..59491510-chr6:31618990..31620979,2	MCF-7	breast:
16	chr17:59491287..59491896-chr17:59628259..59629210,3	MCF-7	breast:
17	chr17:59489097..59491505-chr20:52824203..52825940,2	MCF-7	breast:
18	chr17:59486789..59493376-chr20:46130669..46135131,5	MCF-7	breast:
19	chr17:59488616..59494924-chr20:52554630..52559372,9	MCF-7	breast:
20	chr17:59489843..59492538-chr20:52557995..52559827,2	MCF-7	breast:
21	chr17:59490768..59492795-chr20:42086265..42087870,2	MCF-7	breast:
22	chr17:59489837..59492539-chr20:52768488..52770171,2	MCF-7	breast:
23	chr17:59491280..59491926-chr17:59651408..59652412,3	MCF-7	breast:
24	chr17:59490269..59492891-chr17:73768082..73769932,2	MCF-7	breast:
25	chr17:59489238..59492668-chr17:59650942..59653805,58	MCF-7	breast:
26	chr17:59489427..59492418-chr17:59944294..59946744,2	MCF-7	breast:
27	chr1:112527808..112533804-chr17:59487383..59491538,7	MCF-7	breast:
28	chr17:59488637..59491687-chr20:49346765..49351004,5	MCF-7	breast:
29	chr17:59085731..59087853-chr17:59489578..59492424,2	MCF-7	breast:
30	chr17:59484671..59491871-chr20:55837745..55844407,10	MCF-7	breast:
31	chr17:59490733..59491562-chr20:49411114..49411874,2	MCF-7	breast:
32	chr17:59490904..59493858-chr5:81572794..81575325,2	MCF-7	breast:
33	chr17:59486918..59494123-chr20:45984608..45990861,17	MCF-7	breast:
34	chr17:59490326..59492586-chr17:59938992..59941381,2	MCF-7	breast:
35	chr17:59489526..59491769-chr17:59745593..59747850,2	MCF-7	breast:
36	chr17:59486255..59492170-chr17:59932286..59941695,13	MCF-7	breast:
37	chr17:59491155..59493434-chr3:64672960..64675893,2	MCF-7	breast:
38	chr17:59490268..59492067-chr17:73507974..73510411,2	MCF-7	breast:
39	chr17:57968948..57972099-chr17:59491363..59493598,3	MCF-7	breast:
40	chr17:59489687..59492860-chr20:52555075..52557067,4	MCF-7	breast:
41	chr17:56735008..56738004-chr17:59488690..59493037,7	MCF-7	breast:
42	chr17:57920539..57925280-chr17:59487661..59491600,7	MCF-7	breast:
43	chr17:59489914..59492282-chr20:55683243..55685031,2	MCF-7	breast:
44	chr17:57943197..57944726-chr17:59489837..59491971,2	MCF-7	breast:
45	chr17:57913418..57928047-chr17:59480816..59492160,26	MCF-7	breast:
46	chr17:59489853..59492100-chr20:52604807..52606862,2	MCF-7	breast:
47	chr17:59447417..59500105-chr20:49391742..49424382,639	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267280	TF binding region
ENSG00000101144	Chromatin interaction
ENSG00000124193	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000112624	Chromatin interaction
ENSG00000082701	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000181171	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000124243	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000186468	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000171385	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000205464	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000231437	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000265595	Chromatin interaction
ENSG00000163638	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000064787	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4968554	1.00[ASN][1000 genomes]
rs4968555	1.00[ASN][1000 genomes]
rs62069622	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065939	chr17:59283350-59517730	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	331 gene(s)	inside rSNPs	diseases
2	nsv833505	chr17:59323466-59518007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	326 gene(s)	inside rSNPs	diseases
3	nsv833506	chr17:59362377-59562984	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
4	esv1796927	chr17:59460119-59495319	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	270 gene(s)	inside rSNPs	diseases
5	nsv908663	chr17:59464069-59521310	Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	278 gene(s)	inside rSNPs	diseases
6	nsv908665	chr17:59470193-59494574	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
7	nsv908668	chr17:59471151-59494574	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	263 gene(s)	inside rSNPs	diseases
8	nsv908670	chr17:59471372-59494574	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	262 gene(s)	inside rSNPs	diseases
9	nsv908671	chr17:59475888-59494574	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	255 gene(s)	inside rSNPs	diseases
10	nsv908672	chr17:59476062-59494574	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	255 gene(s)	inside rSNPs	diseases
11	nsv519931	chr17:59491281-59514461	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59490200-59491600	Weak transcription	Hela-S3	cervix
2	chr17:59490200-59493800	Weak transcription	K562	blood
3	chr17:59490400-59493600	Weak transcription	HSMMtube	muscle
4	chr17:59490400-59493800	Weak transcription	Liver	Liver
5	chr17:59490600-59491800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:59490600-59493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr17:59490600-59493800	Weak transcription	Brain Angular Gyrus	brain
8	chr17:59490600-59493800	Weak transcription	Gastric	stomach
9	chr17:59490600-59494000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:59490600-59494000	Weak transcription	Esophagus	oesophagus
11	chr17:59490600-59494000	Weak transcription	HMEC	breast
12	chr17:59490600-59494200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:59490600-59494200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:59490800-59491600	Weak transcription	Left Ventricle	heart
15	chr17:59490800-59491600	Weak transcription	Right Ventricle	heart
16	chr17:59490800-59492000	Enhancers	Ovary	ovary
17	chr17:59490800-59492600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr17:59490800-59493200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:59490800-59494000	Weak transcription	Brain Anterior Caudate	brain
20	chr17:59490800-59494000	Weak transcription	Brain Substantia Nigra	brain
21	chr17:59490800-59494000	Weak transcription	Pancreas	Pancrea
22	chr17:59491000-59491600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:59491000-59491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:59491000-59491800	Bivalent Enhancer	Colonic Mucosa	Colon
25	chr17:59491000-59492000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:59491000-59492000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr17:59491000-59492000	Weak transcription	Aorta	Aorta
28	chr17:59491000-59492000	Active TSS	Fetal Lung	lung
29	chr17:59491000-59492200	Enhancers	Right Atrium	heart
30	chr17:59491000-59492400	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr17:59491000-59492400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr17:59491000-59493200	Weak transcription	NH-A	brain
33	chr17:59491000-59493600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:59491000-59493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:59491000-59493800	Enhancers	Adipose Nuclei	Adipose
36	chr17:59491000-59493800	Weak transcription	Fetal Heart	heart
37	chr17:59491000-59493800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr17:59491000-59493800	Enhancers	NHDF-Ad	bronchial
39	chr17:59491000-59494000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:59491000-59494000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:59491000-59494000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:59491000-59494000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr17:59491000-59494600	Enhancers	Lung	lung
44	chr17:59491000-59495600	Enhancers	Placenta	Placenta
45	chr17:59491000-59504200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:59491200-59492200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:59491200-59492600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr17:59491200-59493800	Enhancers	Osteobl	bone
49	chr17:59491200-59494000	Weak transcription	Fetal Kidney	kidney
50	chr17:59491400-59491600	Enhancers	HepG2	liver

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