Variant report

Variant	rs4902322
Chromosome Location	chr14:65323009-65323010
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65280294..65282900-chr14:65322430..65324178,2	MCF-7	breast:
2	chr14:65293069..65296062-chr14:65321540..65323696,2	K562	blood:
3	chr14:65313283..65315169-chr14:65321927..65324245,2	K562	blood:
4	chr14:65315035..65317899-chr14:65322274..65327051,4	MCF-7	breast:
5	chr14:65318120..65320301-chr14:65322198..65325013,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1012376	0.83[AFR][1000 genomes]
rs10498519	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622962	0.83[AFR][1000 genomes]
rs11623597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11623705	0.86[JPT][hapmap]
rs12147495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17752452	0.85[JPT][hapmap]
rs28625548	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: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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4902322	C14orf52	cis	multi-tissue	Pritchard
rs4902322	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs4902322	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65315400-65324600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:65319400-65324200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:65319400-65332600	Weak transcription	Right Atrium	heart
4	chr14:65320200-65328400	Weak transcription	Fetal Heart	heart
5	chr14:65320600-65323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:65321000-65324000	Enhancers	Psoas Muscle	Psoas
7	chr14:65321000-65324800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:65321200-65323200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:65321400-65323200	Enhancers	Left Ventricle	heart
10	chr14:65321400-65324000	Enhancers	Fetal Muscle Leg	muscle
11	chr14:65322400-65323200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:65322400-65323200	Bivalent Enhancer	Placenta	Placenta
13	chr14:65322400-65323800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:65322400-65324000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:65322400-65325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:65322400-65325600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:65322600-65323200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr14:65322600-65323200	Enhancers	Right Ventricle	heart
19	chr14:65322600-65323600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:65322600-65323600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:65322600-65323600	Enhancers	K562	blood
22	chr14:65322600-65323800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:65322600-65325600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:65322600-65325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:65322800-65323600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:65322800-65328200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:65323000-65323400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr14:65323000-65323400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:65323000-65324800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65323000-65330000	Weak transcription	Fetal Muscle Trunk	muscle

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