Variant report

Variant	rs12656918
Chromosome Location	chr5:68576014-68576015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10940206	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12651858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652124	0.85[ASN][1000 genomes]
rs12656423	1.00[EUR][1000 genomes]
rs12656449	1.00[EUR][1000 genomes]
rs12657418	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054977	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2069433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs338685	0.93[JPT][hapmap]
rs3934529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443380	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4976158	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59515371	1.00[EUR][1000 genomes]
rs60113639	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60824482	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125214	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73125295	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73127319	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127323	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127331	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7733529	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12656918	CCDC125	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 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	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
5	chr5:68546200-68579200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:68549400-68577600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:68549600-68577600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:68550400-68581800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:68550600-68577000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:68552000-68581200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:68552200-68580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:68552200-68588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:68553000-68581400	Weak transcription	Psoas Muscle	Psoas
14	chr5:68553800-68587800	Weak transcription	Colonic Mucosa	Colon
15	chr5:68554000-68577600	Weak transcription	Fetal Heart	heart
16	chr5:68554200-68604400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:68559000-68583400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:68559200-68581200	Weak transcription	Fetal Kidney	kidney
19	chr5:68559600-68584000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:68562000-68576400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:68562400-68577000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:68562600-68578800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:68562600-68584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:68562800-68577400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:68563000-68585200	Strong transcription	Liver	Liver
26	chr5:68563200-68577400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:68564200-68611200	Weak transcription	Fetal Brain Male	brain
28	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:68566000-68591000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:68566800-68610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:68567800-68578200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:68569000-68576400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:68569200-68576400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:68569400-68582000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:68569800-68576800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:68570200-68578200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:68570800-68578800	Strong transcription	Adipose Nuclei	Adipose
38	chr5:68571400-68578200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:68571600-68578400	Strong transcription	Fetal Stomach	stomach
40	chr5:68571600-68579000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:68571600-68579800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr5:68571600-68581600	Strong transcription	Fetal Thymus	thymus
43	chr5:68571800-68577400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:68572000-68577000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:68572000-68577400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:68572000-68578000	Strong transcription	Placenta	Placenta
47	chr5:68572200-68576200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:68572200-68577400	Strong transcription	Fetal Muscle Leg	muscle
49	chr5:68572200-68577400	Strong transcription	Dnd41	blood
50	chr5:68572400-68576600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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