Variant report

Variant	rs28625548
Chromosome Location	chr14:65327395-65327396
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1012376	0.83[AFR][1000 genomes]
rs10498519	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622962	0.83[AFR][1000 genomes]
rs11623597	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12147495	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145282	0.82[ASN][1000 genomes]
rs72726228	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72726259	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28625548	CHURC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65319400-65332600	Weak transcription	Right Atrium	heart
2	chr14:65320200-65328400	Weak transcription	Fetal Heart	heart
3	chr14:65322800-65328200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:65323000-65330000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:65323600-65328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:65324600-65327400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr14:65325400-65328200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:65325400-65328400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:65325400-65328400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:65325400-65328600	Weak transcription	Left Ventricle	heart
11	chr14:65325600-65328200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:65325600-65328200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:65325600-65328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:65325600-65328400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:65325600-65328400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:65325600-65331800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:65325600-65332200	Weak transcription	Right Ventricle	heart
18	chr14:65325800-65332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:65326800-65327400	Enhancers	K562	blood
20	chr14:65327000-65327600	Enhancers	Psoas Muscle	Psoas
21	chr14:65327200-65328400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:65327200-65328400	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:65327200-65328800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:65327200-65332000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:65327200-65332200	Weak transcription	H9 Cell Line	embryonic stem cell

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