Variant report

Variant	rs12437108
Chromosome Location	chr14:65309550-65309551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65293736..65296089-chr14:65308632..65311499,2	K562	blood:
2	chr14:65307162..65309690-chr14:65332529..65335458,2	K562	blood:
3	chr14:65307862..65310367-chr14:65313110..65315645,2	MCF-7	breast:
4	chr14:65307919..65310275-chr14:65380643..65382616,2	K562	blood:
5	chr14:65302483..65304714-chr14:65308064..65309843,2	K562	blood:
6	chr14:65306551..65309829-chr14:65344865..65347134,3	K562	blood:
7	chr14:65290998..65293836-chr14:65307900..65310163,2	K562	blood:
8	chr14:65296488..65300322-chr14:65306337..65310294,4	K562	blood:
9	chr14:65308370..65310775-chr14:65344440..65346663,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 6 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1570295	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2828	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs396974	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs435627	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154019	0.80[AMR][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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12437108	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs12437108	CHURC1	cis	Whole Blood	GTEx
rs12437108	CHURC1	cis	Thyroid	GTEx
rs12437108	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs12437108	CHURC1	cis	Esophagus Muscularis	GTEx
rs12437108	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs12437108	CHURC1	cis	Artery Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65298400-65309800	Weak transcription	Right Ventricle	heart
2	chr14:65307000-65309600	Enhancers	Fetal Muscle Leg	muscle
3	chr14:65307000-65314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:65307600-65310000	Weak transcription	Right Atrium	heart
5	chr14:65308000-65310000	Weak transcription	Psoas Muscle	Psoas
6	chr14:65308200-65311000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:65308400-65311000	Enhancers	Fetal Heart	heart
8	chr14:65308600-65309600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:65308600-65310800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:65308800-65311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:65309000-65309600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr14:65309000-65310200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:65309000-65310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:65309000-65310400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:65309000-65311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:65309000-65311200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:65309200-65312000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:65309400-65309600	Enhancers	Left Ventricle	heart
19	chr14:65309400-65309800	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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