Variant report

Variant	rs4499147
Chromosome Location	chr14:65441561-65441562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr14:65441314-65441604	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr14:65441213-65441696	H1-hESC	embryonic stem cell:	n/a	chr14:65441566-65441580
3	JUND	chr14:65441349-65441614	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr14:65441314-65441567	H1-hESC	embryonic stem cell:	n/a	n/a
5	NANOG	chr14:65441232-65441582	H1-hESC	embryonic stem cell:	n/a	chr14:65441386-65441395
6	RAD21	chr14:65441206-65441653	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr14:65441213-65441723	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr14:65441221-65441674	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr14:65441386-65441635	H1-hESC	embryonic stem cell:	n/a	chr14:65441566-65441580
10	TEAD4	chr14:65441255-65441755	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr14:65441331-65441704	H1-hESC	embryonic stem cell:	n/a	n/a
12	GABPA	chr14:65441326-65441598	H1-hESC	embryonic stem cell:	n/a	n/a
13	NANOG	chr14:65441393-65441609	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65437372..65439364-chr14:65441338..65443299,2	MCF-7	breast:
2	chr14:65439875..65441760-chr17:57919202..57921554,2	MCF-7	breast:
3	chr14:65439920..65442131-chr14:65446641..65449260,2	MCF-7	breast:
4	chr14:65436731..65438620-chr14:65440721..65443279,2	K562	blood:

No data

Variant related genes	Relation type
RAB15	TF binding region
ENSG00000139998	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 15 )

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

rs_ID	r²[population]
rs10132686	0.92[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs11623866	0.92[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs4902355	0.81[TSI][hapmap]
rs7160073	0.85[CEU][hapmap]

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs4499147	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs4499147	CHURC1	cis	Muscle Skeletal	GTEx
rs4499147	CHURC1	cis	multi-tissue	Pritchard
rs4499147	CHURC1	cis	lymphoblastoid	seeQTL
rs4499147	CHURC1	cis	cerebellum	SCAN
rs4499147	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs4499147	CHURC1	cis	normal skin	skin_eQTL
rs4499147	CHURC1	cis	Thyroid	GTEx
rs4499147	CHURC1	cis	Whole Blood	GTEx
rs4499147	RAB15	cis	cerebellum	SCAN
rs4499147	CHURC1	cis	Artery Tibial	GTEx
rs4499147	CHURC1	cis	parietal	SCAN
rs4499147	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs4499147	MAX	cis	cerebellum	SCAN
rs4499147	RAB15	cis	lymphoblastoid	seeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65439600-65441600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65439600-65443400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:65439600-65446200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:65439600-65453600	Weak transcription	Aorta	Aorta
5	chr14:65439800-65450200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:65439800-65450200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:65440000-65444800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:65440000-65445000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:65440000-65446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:65440200-65443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:65440400-65443600	Weak transcription	A549	lung
12	chr14:65440800-65441600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:65440800-65441600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:65440800-65441600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:65440800-65441800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:65441200-65441600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:65441200-65441600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:65441200-65441600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:65441200-65441600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:65441200-65441800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:65441200-65441800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:65441200-65441800	Enhancers	HepG2	liver
23	chr14:65441400-65441600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:65441400-65441600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:65441400-65442000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:65441400-65443600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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