Variant report

Variant	rs9312675
Chromosome Location	chr4:57374235-57374236
allele	A/G
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	chr4:57369589..57371929-chr4:57373498..57375041,2	K562	blood:
3	chr4:57332191..57334066-chr4:57372574..57375327,2	K562	blood:
4	chr4:57371959..57374819-chr4:57375390..57378214,2	MCF-7	breast:
5	chr4:57373583..57375795-chr4:57376977..57379913,2	K562	blood:

Variant related genes	Relation type
ENSG00000196503	Chromatin interaction
ENSG00000249693	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10007967	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10009543	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10015221	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10015634	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866433	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11610	0.88[EUR][1000 genomes]
rs12648503	0.93[EUR][1000 genomes]
rs17086793	0.87[EUR][1000 genomes]
rs17086803	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17086883	0.93[EUR][1000 genomes]
rs17086887	0.93[EUR][1000 genomes]
rs28472763	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4073691	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4131086	0.81[AMR][1000 genomes]
rs4615235	0.88[EUR][1000 genomes]
rs4865102	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4865104	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4865110	0.93[EUR][1000 genomes]
rs57523479	0.93[EUR][1000 genomes]
rs58975286	0.91[ASN][1000 genomes]
rs66599079	0.93[EUR][1000 genomes]
rs68101565	0.93[EUR][1000 genomes]
rs6811482	0.93[EUR][1000 genomes]
rs6811821	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6816218	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820417	0.88[EUR][1000 genomes]
rs6832168	0.87[EUR][1000 genomes]
rs6843587	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6848187	0.88[EUR][1000 genomes]
rs7670198	0.91[EUR][1000 genomes]
rs7692073	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7694047	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7700034	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9312675	SRP72	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57370200-57377400	Weak transcription	K562	blood
2	chr4:57372600-57396200	Weak transcription	Aorta	Aorta
3	chr4:57372800-57374600	Weak transcription	Psoas Muscle	Psoas
4	chr4:57372800-57378200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:57372800-57382800	Weak transcription	Pancreas	Pancrea
6	chr4:57372800-57395800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:57373000-57377200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:57373000-57377400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:57373000-57377600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:57373000-57378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:57373000-57379800	Weak transcription	Stomach Mucosa	stomach
12	chr4:57373000-57395800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:57373200-57377400	Weak transcription	Fetal Heart	heart
14	chr4:57373200-57396200	Weak transcription	Fetal Brain Female	brain
15	chr4:57373200-57396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:57373400-57383000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:57373600-57396200	Weak transcription	Brain Germinal Matrix	brain
18	chr4:57374200-57374400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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