Variant report

Variant	rs28700973
Chromosome Location	chr8:8773155-8773156
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	chr8:8771578..8774012-chr8:8776513..8780192,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10046647	0.82[ASN][1000 genomes]
rs10046695	0.82[ASN][1000 genomes]
rs10046734	0.82[ASN][1000 genomes]
rs10046767	0.82[ASN][1000 genomes]
rs10090356	0.82[ASN][1000 genomes]
rs10093912	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10096966	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10100551	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10103128	0.82[ASN][1000 genomes]
rs10104541	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10109507	0.82[ASN][1000 genomes]
rs10109732	0.82[ASN][1000 genomes]
rs10112744	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775257	0.81[EUR][1000 genomes]
rs11776911	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11782335	0.82[ASN][1000 genomes]
rs12335134	0.82[ASN][1000 genomes]
rs17642782	0.82[ASN][1000 genomes]
rs17643143	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17699608	0.82[ASN][1000 genomes]
rs28448827	1.00[ASN][1000 genomes]
rs28742018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56005029	1.00[ASN][1000 genomes]
rs7012903	0.82[ASN][1000 genomes]
rs9329171	0.82[ASN][1000 genomes]
rs9329172	0.82[ASN][1000 genomes]
rs9329173	0.82[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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1017715	chr8:8766881-8785883	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv275541	chr8:8766881-8791144	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:8752800-8775000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:8758600-8775000	Weak transcription	Small Intestine	intestine
4	chr8:8763200-8783200	Weak transcription	Pancreas	Pancrea
5	chr8:8766400-8775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:8767200-8774400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:8770800-8775000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:8771000-8774000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:8771200-8775000	Weak transcription	HUVEC	blood vessel
10	chr8:8771200-8776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:8771600-8775000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:8771600-8775000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:8771800-8774200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:8771800-8774800	Weak transcription	Osteobl	bone
15	chr8:8771800-8775000	Weak transcription	NH-A	brain
16	chr8:8771800-8775000	Weak transcription	NHDF-Ad	bronchial
17	chr8:8771800-8777600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:8772200-8775000	Weak transcription	HSMMtube	muscle
19	chr8:8772400-8774600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:8772400-8775000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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