Variant report

Variant	rs13280304
Chromosome Location	chr8:8246161-8246162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:8245497-8246230	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000182319	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11785239	0.86[CHB][hapmap]
rs11787150	0.87[ASN][1000 genomes]
rs2030279	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2176631	1.00[CHB][hapmap]
rs2920998	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2921005	0.86[CHB][hapmap]
rs2921007	0.86[CHB][hapmap]
rs2921010	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2921011	0.85[ASN][1000 genomes]
rs2945266	0.86[CHB][hapmap]
rs2945850	0.94[ASN][1000 genomes]
rs2945851	0.94[ASN][1000 genomes]
rs2945854	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2945856	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2945861	0.88[CHB][hapmap]
rs2945891	1.00[CHB][hapmap]
rs2945916	0.86[CHB][hapmap]
rs2948283	0.86[CHB][hapmap]
rs2955552	0.86[CHB][hapmap]
rs2976933	0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs2976935	0.86[CHB][hapmap]
rs2976950	0.90[ASN][1000 genomes]
rs2976955	0.86[CHB][hapmap]
rs2976966	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2976971	0.86[CHB][hapmap]
rs2979130	0.96[ASN][1000 genomes]
rs2979131	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2979132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2979133	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2979157	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980508	0.88[CHB][hapmap]
rs4840932	0.86[CHB][hapmap]
rs4840956	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55712301	0.90[ASN][1000 genomes]
rs712259	0.86[CHB][hapmap]
rs73184345	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	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
3	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer 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
10	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13280304	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8244600-8248800	Weak transcription	Ovary	ovary
2	chr8:8244600-8249600	Weak transcription	Right Atrium	heart
3	chr8:8244800-8246200	Enhancers	Primary B cells from cord blood	blood
4	chr8:8244800-8246200	Weak transcription	Spleen	Spleen
5	chr8:8244800-8246800	Weak transcription	Fetal Kidney	kidney
6	chr8:8244800-8248200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr8:8245000-8247000	Enhancers	Fetal Intestine Large	intestine
8	chr8:8245000-8247000	Enhancers	Fetal Intestine Small	intestine
9	chr8:8245000-8247000	Weak transcription	HSMMtube	muscle
10	chr8:8245000-8247200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr8:8245000-8247600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:8245000-8248200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:8245000-8248200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:8245000-8249200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:8245000-8255600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:8245000-8256800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:8245200-8246400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:8245200-8246600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:8245200-8247800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:8245200-8248400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:8245400-8246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:8245400-8246800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:8245400-8246800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:8245400-8246800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:8245400-8247400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:8245400-8247400	Enhancers	GM12878-XiMat	blood
27	chr8:8245400-8247800	Weak transcription	NH-A	brain
28	chr8:8245400-8249400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:8245600-8246600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:8245600-8246600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:8245600-8246600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:8245600-8247000	Weak transcription	HepG2	liver
33	chr8:8245600-8247400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:8245600-8248200	Weak transcription	Placenta	Placenta
35	chr8:8245800-8247000	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:8246000-8247800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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