Variant report

Variant	rs56267307
Chromosome Location	chr15:75886327-75886328
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75885305..75889447-chr15:75891213..75893607,3	K562	blood:

Variant related genes	Relation type
ENSG00000260269	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1128585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372916	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372917	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3210683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886453	0.82[EUR][1000 genomes]
rs4886723	0.87[EUR][1000 genomes]
rs55737327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56178382	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436854	0.88[EUR][1000 genomes]
rs8025681	0.83[EUR][1000 genomes]
rs8027749	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8041160	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs56267307	CTD-2323K18.1	cis	lung	GTEx
rs56267307	MAN2C1	cis	Esophagus Muscularis	GTEx
rs56267307	SNUPN	cis	Thyroid	GTEx
rs56267307	CTD-2323K18.1	cis	Thyroid	GTEx
rs56267307	MAN2C1	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75872200-75888600	Weak transcription	Aorta	Aorta
2	chr15:75872400-75886600	Weak transcription	Primary B cells from cord blood	blood
3	chr15:75872400-75886600	Weak transcription	Brain Anterior Caudate	brain
4	chr15:75872400-75886600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:75872400-75886600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:75872400-75886600	Weak transcription	NH-A	brain
7	chr15:75872400-75886800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:75872400-75886800	Weak transcription	Fetal Lung	lung
9	chr15:75872400-75887600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:75872400-75887800	Weak transcription	Brain Angular Gyrus	brain
11	chr15:75872400-75887800	Weak transcription	Lung	lung
12	chr15:75872400-75888000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:75872400-75888000	Weak transcription	Brain Substantia Nigra	brain
14	chr15:75872400-75888200	Weak transcription	NHLF	lung
15	chr15:75872400-75888400	Weak transcription	Fetal Kidney	kidney
16	chr15:75872400-75889600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:75872400-75890600	Weak transcription	Psoas Muscle	Psoas
18	chr15:75872400-75891600	Weak transcription	Pancreas	Pancrea
19	chr15:75872400-75892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:75872400-75898600	Weak transcription	Small Intestine	intestine
21	chr15:75872600-75886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:75872600-75886600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:75872600-75886600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:75872600-75886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:75872600-75886600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:75872600-75886600	Weak transcription	Thymus	Thymus
27	chr15:75872600-75886800	Weak transcription	A549	lung
28	chr15:75872600-75888000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:75872600-75888600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:75872600-75888800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:75872600-75889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:75872600-75889400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:75872600-75889600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:75872600-75889600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:75872600-75889800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:75872800-75888000	Weak transcription	Dnd41	blood
37	chr15:75876800-75886800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:75876800-75886800	Weak transcription	Osteobl	bone
39	chr15:75876800-75887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:75876800-75887800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:75876800-75888000	Weak transcription	HMEC	breast
42	chr15:75876800-75889200	Weak transcription	HepG2	liver
43	chr15:75876800-75899200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr15:75877000-75886600	Weak transcription	HSMM	muscle
45	chr15:75877000-75886800	Weak transcription	Ovary	ovary
46	chr15:75877200-75889600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:75877600-75901800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:75877800-75889000	Weak transcription	HUVEC	blood vessel
49	chr15:75880200-75886800	Weak transcription	Hela-S3	cervix
50	chr15:75880400-75912400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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