Variant report

Variant	rs28504498
Chromosome Location	chr4:187767430-187767431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187762414..187767903-chr4:187771825..187775014,7	K562	blood:
2	chr4:187644243..187647886-chr4:187765667..187770320,5	K562	blood:
3	chr4:187764771..187768253-chr4:187793042..187796524,4	K562	blood:
4	chr4:187419874..187422872-chr4:187765170..187767723,2	K562	blood:
5	chr4:187766368..187767880-chr4:187768124..187769704,2	K562	blood:
6	chr4:187765084..187768724-chr4:187798597..187801696,3	K562	blood:
7	chr4:187765345..187768109-chr4:187793611..187797439,3	K562	blood:
8	chr4:187765556..187770038-chr4:187777657..187782373,4	K562	blood:
9	chr4:187675660..187683717-chr4:187759108..187768484,20	K562	blood:
10	chr4:187765177..187771006-chr4:187807000..187811310,9	K562	blood:
11	chr4:187765177..187768069-chr4:187809539..187811310,3	K562	blood:
12	chr4:187766677..187768346-chr4:187783424..187785268,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251165	Chromatin interaction
ENSG00000212387	Chromatin interaction
ENSG00000083857	Chromatin interaction
ENSG00000252382	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11132410	0.97[ASN][1000 genomes]
rs13142820	0.88[ASN][1000 genomes]
rs1367932	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1367933	0.98[ASN][1000 genomes]
rs1367934	0.98[ASN][1000 genomes]
rs1431929	0.98[ASN][1000 genomes]
rs28367018	0.94[EUR][1000 genomes]
rs28558940	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28826385	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4543184	0.96[ASN][1000 genomes]
rs4862738	0.88[ASN][1000 genomes]
rs745881	0.97[ASN][1000 genomes]
rs7661304	0.97[ASN][1000 genomes]
rs9990736	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9990859	0.83[EUR][1000 genomes];0.88[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	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS 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
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv596441	chr4:187695564-187786316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187765600-187769000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:187766000-187767800	Enhancers	NHLF	lung
3	chr4:187766000-187768000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:187766000-187768200	Enhancers	HepG2	liver
5	chr4:187766200-187768200	Enhancers	NHDF-Ad	bronchial
6	chr4:187766200-187768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:187766600-187767600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:187766600-187768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:187766600-187772600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:187766800-187767600	Enhancers	Duodenum Mucosa	Duodenum
11	chr4:187766800-187768000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:187766800-187768000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:187767000-187767600	Enhancers	Hela-S3	cervix
14	chr4:187767000-187767600	Enhancers	HUVEC	blood vessel
15	chr4:187767000-187768000	Enhancers	Osteobl	bone
16	chr4:187767000-187768200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:187767000-187768800	Enhancers	K562	blood
18	chr4:187767000-187770200	Weak transcription	HSMMtube	muscle
19	chr4:187767000-187772400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:187767400-187768600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:187767400-187771600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:187767400-187772200	Weak transcription	Fetal Intestine Large	intestine
23	chr4:187767400-187773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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