Variant report

Variant	rs4865110
Chromosome Location	chr4:57373149-57373150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57372251..57375793-chr4:57396612..57399157,3	K562	blood:
2	chr4:57332191..57334066-chr4:57372574..57375327,2	K562	blood:
3	chr4:57371959..57374819-chr4:57375390..57378214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249693	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10007967	0.93[EUR][1000 genomes]
rs10015634	0.93[EUR][1000 genomes]
rs10518	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10866433	0.88[EUR][1000 genomes]
rs11610	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12646703	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12648503	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356787	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17086793	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17086803	0.88[EUR][1000 genomes]
rs17086883	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17086887	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28472763	0.84[EUR][1000 genomes]
rs4073691	0.86[EUR][1000 genomes]
rs4383672	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4524447	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4615235	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4616819	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4865104	0.88[EUR][1000 genomes]
rs4865105	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57523479	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6584	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs66599079	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68101565	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6811482	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6811821	0.93[EUR][1000 genomes]
rs6816218	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6816268	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6818715	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6820417	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830518	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6832168	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6842307	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6843587	0.86[EUR][1000 genomes]
rs6848187	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7670198	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7700034	0.93[EUR][1000 genomes]
rs9312675	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	59 gene(s)	inside rSNPs	diseases
5	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4865110	SRP72	cis	Whole Blood	GTEx
rs4865110	SRP72	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57370200-57377400	Weak transcription	K562	blood
2	chr4:57371400-57373200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:57371600-57373200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:57372400-57373200	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr4:57372400-57373200	Bivalent Enhancer	Left Ventricle	heart
6	chr4:57372400-57373400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr4:57372600-57373200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
8	chr4:57372600-57396200	Weak transcription	Aorta	Aorta
9	chr4:57372800-57373200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:57372800-57373200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:57372800-57373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:57372800-57373200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:57372800-57373200	Enhancers	Fetal Heart	heart
14	chr4:57372800-57373200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr4:57372800-57373200	Enhancers	Ovary	ovary
16	chr4:57372800-57374600	Weak transcription	Psoas Muscle	Psoas
17	chr4:57372800-57378200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:57372800-57382800	Weak transcription	Pancreas	Pancrea
19	chr4:57372800-57395800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:57373000-57373200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr4:57373000-57373200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr4:57373000-57373200	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:57373000-57373200	Enhancers	Fetal Brain Male	brain
24	chr4:57373000-57373200	Active TSS	Fetal Brain Female	brain
25	chr4:57373000-57373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:57373000-57377200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:57373000-57377400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:57373000-57377600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:57373000-57378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:57373000-57379800	Weak transcription	Stomach Mucosa	stomach
31	chr4:57373000-57395800	Weak transcription	Brain Anterior Caudate	brain

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