Variant report

Variant	rs10057750
Chromosome Location	chr5:127150176-127150177
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127148666..127150233-chr5:127258444..127260083,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10051423	0.88[EUR][1000 genomes]
rs10491251	0.84[EUR][1000 genomes]
rs1421746	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110358	0.82[ASN][1000 genomes]
rs2110359	0.83[ASN][1000 genomes]
rs35828853	0.83[EUR][1000 genomes]
rs711360	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10057750	PRRC1	cis	cerebellum	SCAN
rs10057750	CTXN3	cis	cerebellum	SCAN
rs10057750	SLC12A2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127139200-127151800	Weak transcription	Stomach Mucosa	stomach
2	chr5:127145000-127151000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:127147400-127150600	Enhancers	HMEC	breast
4	chr5:127147400-127151000	Enhancers	NHDF-Ad	bronchial
5	chr5:127147400-127151000	Enhancers	NHLF	lung
6	chr5:127147600-127150600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:127147800-127150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:127148000-127150800	Enhancers	HSMMtube	muscle
9	chr5:127148000-127151200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:127148000-127151200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:127148000-127151200	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:127148200-127150600	Enhancers	HUVEC	blood vessel
13	chr5:127148200-127150600	Enhancers	Osteobl	bone
14	chr5:127148200-127151000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:127148400-127150200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:127148400-127150200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:127148400-127150400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:127148400-127150400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:127148400-127150400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:127148400-127150600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:127148400-127150600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:127148400-127151000	Enhancers	HSMM	muscle
23	chr5:127148400-127152400	Enhancers	Fetal Stomach	stomach
24	chr5:127148600-127150200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:127148600-127150600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:127148800-127151400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:127149000-127154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:127149200-127151200	Enhancers	Ovary	ovary
29	chr5:127149400-127150200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:127149400-127151000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:127149600-127150200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:127149600-127150200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:127149600-127150600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:127149600-127150600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:127149800-127150200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:127149800-127150200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:127149800-127150200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:127149800-127150200	Flanking Active TSS	A549	lung
39	chr5:127149800-127150200	Flanking Active TSS	NH-A	brain
40	chr5:127149800-127150400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:127149800-127152000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:127150000-127150200	Enhancers	Esophagus	oesophagus
43	chr5:127150000-127150200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr5:127150000-127150400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:127150000-127150400	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr5:127150000-127150600	Enhancers	NHEK	skin
47	chr5:127150000-127159400	Weak transcription	Right Atrium	heart

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