Variant report

Variant	rs28620285
Chromosome Location	chr4:8309576-8309577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8306129..8312354-chr4:8314662..8318399,6	MCF-7	breast:
2	chr4:8308134..8310233-chr4:8366379..8367956,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10014361	1.00[AMR][1000 genomes]
rs1281147	1.00[EUR][1000 genomes]
rs1292647	1.00[EUR][1000 genomes]
rs28572219	1.00[EUR][1000 genomes]
rs28678348	1.00[AMR][1000 genomes]
rs4696813	1.00[EUR][1000 genomes]
rs57584841	1.00[EUR][1000 genomes]
rs58912103	1.00[EUR][1000 genomes]
rs60246256	1.00[EUR][1000 genomes]
rs60263323	1.00[EUR][1000 genomes]
rs60368234	1.00[EUR][1000 genomes]
rs61335356	1.00[EUR][1000 genomes]
rs6823593	1.00[EUR][1000 genomes]
rs73083700	1.00[EUR][1000 genomes]
rs73799128	1.00[AMR][1000 genomes]
rs73801722	1.00[EUR][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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv878603	chr4:8289807-8312158	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8279000-8317200	Weak transcription	Gastric	stomach
2	chr4:8295200-8310400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:8303800-8309800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:8306000-8311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:8306000-8311800	Enhancers	Adipose Nuclei	Adipose
6	chr4:8306400-8314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:8306600-8310000	Weak transcription	K562	blood
8	chr4:8307000-8309600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr4:8307600-8312400	Enhancers	Right Ventricle	heart
10	chr4:8307800-8309600	Enhancers	Fetal Muscle Leg	muscle
11	chr4:8308200-8313000	Enhancers	Ovary	ovary
12	chr4:8308600-8309600	Enhancers	Psoas Muscle	Psoas
13	chr4:8308600-8309600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:8308600-8310600	Weak transcription	Fetal Lung	lung
15	chr4:8308600-8311400	Weak transcription	Esophagus	oesophagus
16	chr4:8308800-8310600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr4:8308800-8310800	Weak transcription	Left Ventricle	heart
18	chr4:8309000-8309600	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr4:8309000-8310600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:8309000-8311600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:8309200-8309600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:8309200-8310000	Strong transcription	Fetal Stomach	stomach
23	chr4:8309200-8310400	Weak transcription	Right Atrium	heart
24	chr4:8309200-8310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:8309200-8310600	Weak transcription	Fetal Heart	heart
26	chr4:8309200-8311000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:8309200-8311200	Weak transcription	HSMMtube	muscle
28	chr4:8309400-8310200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:8309400-8311000	Weak transcription	Spleen	Spleen
30	chr4:8309400-8311600	Weak transcription	Colon Smooth Muscle	Colon

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