Variant report

Variant	rs28728234
Chromosome Location	chr8:10486276-10486277
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	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11250032	1.00[AMR][1000 genomes]
rs13274837	1.00[AMR][1000 genomes]
rs55731228	1.00[AMR][1000 genomes]
rs55919609	1.00[AMR][1000 genomes]
rs56074164	1.00[AMR][1000 genomes]
rs56406662	1.00[AMR][1000 genomes]
rs56913988	1.00[AMR][1000 genomes]
rs73662856	1.00[AMR][1000 genomes]
rs73662859	1.00[AMR][1000 genomes]
rs73662861	1.00[AMR][1000 genomes]
rs73662862	1.00[AMR][1000 genomes]
rs73662863	1.00[AMR][1000 genomes]
rs73662864	1.00[AMR][1000 genomes]
rs73662865	1.00[AMR][1000 genomes]
rs73662866	1.00[AMR][1000 genomes]
rs73662867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv1031279	chr8:10448142-10501380	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1022682	chr8:10453091-10501380	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
12	nsv539467	chr8:10455842-10495689	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
13	nsv890352	chr8:10461484-10486652	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
2	chr8:10481400-10487800	Weak transcription	Pancreas	Pancrea
3	chr8:10482400-10487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:10482600-10488800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:10483600-10486400	Weak transcription	Left Ventricle	heart
6	chr8:10483800-10486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:10483800-10487400	Weak transcription	Spleen	Spleen
8	chr8:10484000-10487400	Weak transcription	Lung	lung
9	chr8:10484000-10487600	Weak transcription	Ovary	ovary
10	chr8:10484000-10487600	Weak transcription	Right Ventricle	heart
11	chr8:10484000-10487600	Weak transcription	NH-A	brain
12	chr8:10484000-10487800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:10484000-10488000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:10484000-10488000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:10484200-10486400	Weak transcription	Adipose Nuclei	Adipose
16	chr8:10484200-10487800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:10484200-10487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10484200-10487800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:10485200-10490200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:10485400-10489000	Enhancers	HUVEC	blood vessel
21	chr8:10485600-10490000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:10486000-10487800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:10486000-10492000	Enhancers	Fetal Muscle Leg	muscle
24	chr8:10486200-10486600	Enhancers	Fetal Kidney	kidney

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