Variant report

Variant	rs7146475
Chromosome Location	chr14:65312567-65312568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65312151..65316310-chr14:65346214..65348556,3	K562	blood:
2	chr14:65310132..65313690-chr14:65314321..65317713,3	K562	blood:
3	chr14:65310132..65314457-chr14:65315119..65319141,7	K562	blood:
4	chr14:65309823..65312590-chr14:65316420..65318334,2	MCF-7	breast:
5	chr14:65311733..65313591-chr14:65343114..65345431,2	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10138506	1.00[JPT][hapmap]
rs4902321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323457	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7146475	CHURC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65307000-65314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:65309600-65313000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:65310000-65314800	Enhancers	Psoas Muscle	Psoas
4	chr14:65310400-65313400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:65310600-65312800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:65310600-65313600	Weak transcription	Right Atrium	heart
7	chr14:65310800-65313200	Bivalent Enhancer	HSMMtube	muscle
8	chr14:65311000-65313000	Weak transcription	Left Ventricle	heart
9	chr14:65311200-65313000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:65311200-65313200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:65311200-65313200	Weak transcription	Right Ventricle	heart
12	chr14:65311200-65313400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:65311200-65313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:65311200-65314800	Enhancers	Fetal Heart	heart
15	chr14:65311600-65312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:65311600-65312800	Flanking Active TSS	K562	blood
17	chr14:65311600-65313000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:65311800-65318200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:65312000-65312600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:65312400-65312600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:65312400-65312600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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