Variant report

Variant	rs60296378
Chromosome Location	chr4:56946072-56946073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56944085..56946867-chr4:56949220..56951165,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10517367	0.91[ASN][1000 genomes]
rs11938852	0.85[ASN][1000 genomes]
rs13112752	0.89[ASN][1000 genomes]
rs17086249	0.86[ASN][1000 genomes]
rs2412720	0.89[ASN][1000 genomes]
rs2412721	0.86[ASN][1000 genomes]
rs2412722	0.89[ASN][1000 genomes]
rs2412725	0.81[ASN][1000 genomes]
rs2412726	0.85[ASN][1000 genomes]
rs2899054	0.86[ASN][1000 genomes]
rs34546346	1.00[ASN][1000 genomes]
rs34577487	0.86[ASN][1000 genomes]
rs35736349	0.87[ASN][1000 genomes]
rs35976456	0.85[ASN][1000 genomes]
rs36092812	0.98[ASN][1000 genomes]
rs4355456	0.88[ASN][1000 genomes]
rs4645275	0.88[ASN][1000 genomes]
rs59053231	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59838410	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819574	0.83[ASN][1000 genomes]
rs6826903	0.89[ASN][1000 genomes]
rs6836376	0.85[ASN][1000 genomes]
rs6839870	0.86[ASN][1000 genomes]
rs73155600	0.85[ASN][1000 genomes]
rs73155601	0.88[ASN][1000 genomes]
rs73162699	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73162701	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672541	0.86[ASN][1000 genomes]
rs7676365	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999328	chr4:56942917-57041586	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1007114	chr4:56942917-57055381	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60296378	KIAA1211	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56942400-56947000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:56943200-56946200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr4:56944200-56951000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:56945200-56948400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:56945200-56951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:56945400-56946600	Enhancers	Hela-S3	cervix
7	chr4:56945400-56948600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:56945400-56949000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:56945400-56950800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:56945400-56951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:56945400-56952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:56945600-56948200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:56945600-56965200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:56945800-56950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:56946000-56946800	Weak transcription	Rectal Mucosa Donor 31	rectum

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