Variant report

Variant	rs73127323
Chromosome Location	chr5:68565708-68565709
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	chr5:68562809..68566315-chr5:68569480..68571051,3	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10940206	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12651858	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652124	0.81[ASN][1000 genomes]
rs12656423	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12656449	1.00[EUR][1000 genomes]
rs12656918	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12657418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054977	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069433	0.80[ASN][1000 genomes]
rs3934529	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4443380	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4976158	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59515371	1.00[EUR][1000 genomes]
rs60113639	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60824482	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125214	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73125295	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73127319	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733529	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv965550	chr5:68556472-68572197	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73127323	CCDC125	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
4	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:68534400-68575200	Weak transcription	Aorta	Aorta
6	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
7	chr5:68546200-68579200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:68546400-68569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:68546600-68566600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:68548600-68566600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:68549400-68577600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:68549600-68577600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:68549800-68567800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:68550400-68581800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:68550600-68577000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:68550800-68566600	Strong transcription	HSMM	muscle
17	chr5:68550800-68568400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:68550800-68569600	Strong transcription	Primary B cells from cord blood	blood
19	chr5:68551200-68567000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:68551400-68567400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:68551600-68568000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:68551800-68568000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:68551800-68570200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:68552000-68566200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:68552000-68566400	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:68552000-68567000	Strong transcription	Primary T cells from cord blood	blood
27	chr5:68552000-68581200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:68552200-68580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:68552200-68588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:68552400-68566600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:68553000-68581400	Weak transcription	Psoas Muscle	Psoas
32	chr5:68553800-68575800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:68553800-68587800	Weak transcription	Colonic Mucosa	Colon
34	chr5:68554000-68566600	Strong transcription	Fetal Stomach	stomach
35	chr5:68554000-68577600	Weak transcription	Fetal Heart	heart
36	chr5:68554200-68604400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:68554600-68566200	Strong transcription	Fetal Intestine Small	intestine
38	chr5:68556200-68568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:68556200-68574800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:68557200-68566000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:68557200-68572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:68557200-68575400	Weak transcription	Gastric	stomach
43	chr5:68557400-68566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:68557400-68566600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:68557400-68575200	Weak transcription	Pancreas	Pancrea
46	chr5:68557400-68575400	Weak transcription	Right Ventricle	heart
47	chr5:68559000-68583400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:68559200-68581200	Weak transcription	Fetal Kidney	kidney
49	chr5:68559600-68584000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:68559800-68571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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