Variant report

Variant	rs1475101
Chromosome Location	chr14:65308083-65308084
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65307162..65309690-chr14:65332529..65335458,2	K562	blood:
2	chr14:65307862..65310367-chr14:65313110..65315645,2	MCF-7	breast:
3	chr14:65308032..65309548-chr14:65310473..65312252,2	K562	blood:
4	chr14:65307919..65310275-chr14:65380643..65382616,2	K562	blood:
5	chr14:65302483..65304714-chr14:65308064..65309843,2	K562	blood:
6	chr14:65302136..65304869-chr14:65306448..65308856,2	MCF-7	breast:
7	chr14:65306551..65309829-chr14:65344865..65347134,3	K562	blood:
8	chr14:65306058..65308869-chr14:65317790..65319964,2	MCF-7	breast:
9	chr14:65290998..65293836-chr14:65307900..65310163,2	K562	blood:
10	chr14:65296488..65300322-chr14:65306337..65310294,4	K562	blood:
11	chr14:65306477..65308569-chr14:65377752..65379840,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1033785	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10498518	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12590986	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1535450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951488	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1957425	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs230702	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs378391	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs422574	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs435627	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6573585	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs743264	0.81[CHB][hapmap];0.83[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1475101	CHURC1	cis	Esophagus Muscularis	GTEx
rs1475101	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs1475101	CHURC1	cis	Whole Blood	GTEx
rs1475101	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs1475101	CHURC1	cis	Artery Tibial	GTEx
rs1475101	C14orf52	cis	multi-tissue	Pritchard
rs1475101	CHURC1	cis	Thyroid	GTEx
rs1475101	CHURC1	cis	normal skin	skin_eQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65296400-65308600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr14:65298400-65309800	Weak transcription	Right Ventricle	heart
3	chr14:65303600-65308200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:65307000-65309600	Enhancers	Fetal Muscle Leg	muscle
5	chr14:65307000-65314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:65307200-65308400	Enhancers	A549	lung
7	chr14:65307200-65309400	Flanking Active TSS	K562	blood
8	chr14:65307600-65309000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:65307600-65309000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:65307600-65309400	Weak transcription	Left Ventricle	heart
11	chr14:65307600-65310000	Weak transcription	Right Atrium	heart
12	chr14:65307800-65308200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:65307800-65308200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:65307800-65308400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:65307800-65308400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:65307800-65308400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:65307800-65308800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:65307800-65308800	Enhancers	Aorta	Aorta
19	chr14:65307800-65308800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:65307800-65308800	Enhancers	Placenta	Placenta
21	chr14:65307800-65309000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:65308000-65308200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:65308000-65308200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:65308000-65308200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:65308000-65308200	Bivalent Enhancer	NHEK	skin
26	chr14:65308000-65308400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:65308000-65308400	Flanking Active TSS	Fetal Heart	heart
28	chr14:65308000-65308400	Enhancers	Hela-S3	cervix
29	chr14:65308000-65308800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:65308000-65308800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:65308000-65308800	Enhancers	Lung	lung
32	chr14:65308000-65309000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr14:65308000-65309000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:65308000-65309000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:65308000-65310000	Weak transcription	Psoas Muscle	Psoas

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