Variant report

Variant	rs453301
Chromosome Location	chr8:9030387-9030388
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	chr8:9025233..9028612-chr8:9030173..9035326,5	K562	blood:
2	chr8:9028683..9031216-chr8:9032072..9035247,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs393155	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs435581	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs439989	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1016574	chr8:9007186-9061281	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv539461	chr8:9007186-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv890339	chr8:9029413-9110822	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv890340	chr8:9029413-9121398	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs453301	RP11-62H7.2	cis	Thyroid	GTEx
rs453301	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs453301	RP11-10A14.5	cis	Whole Blood	GTEx
rs453301	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs453301	CTA-398F10.2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9009400-9039000	Weak transcription	Pancreas	Pancrea
2	chr8:9028400-9045200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:9029000-9030400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:9029000-9030400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:9029000-9030600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:9029000-9030600	Flanking Active TSS	K562	blood
7	chr8:9029200-9030400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:9029200-9030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:9029400-9030400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:9029400-9030400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:9029600-9030400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:9029600-9030600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:9029600-9030600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:9029600-9030600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:9029800-9030400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:9029800-9030600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:9029800-9034800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:9030000-9030400	Enhancers	Fetal Heart	heart
19	chr8:9030000-9034600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:9030200-9030600	Enhancers	Fetal Lung	lung
21	chr8:9030200-9030600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:9030200-9030800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:9030200-9036400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:9030200-9040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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