Variant report

Variant	rs10077458
Chromosome Location	chr5:68674938-68674939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68665185..68668152-chr5:68673816..68676048,2	MCF-7	breast:
2	chr5:68665954..68668664-chr5:68673852..68678917,5	K562	blood:
3	chr5:68674092..68677443-chr5:68678943..68682097,4	K562	blood:

Variant related genes	Relation type
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10035835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10038816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10044508	0.85[AFR][1000 genomes]
rs10064264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10068576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10078100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10471774	0.85[AFR][1000 genomes]
rs1168404	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1168409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168410	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1177556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1183278	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561169	0.84[EUR][1000 genomes]
rs2561172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2561186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28703034	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs299075	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs299077	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs299088	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs299091	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs299094	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs299098	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs299099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs299102	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4252228	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62373187	0.85[AFR][1000 genomes]
rs7712318	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][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	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10077458	CCDC125	cis	lung	GTEx
rs10077458	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68666200-68678000	Weak transcription	Spleen	Spleen
2	chr5:68666600-68677800	Weak transcription	Colonic Mucosa	Colon
3	chr5:68666600-68677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:68666600-68681000	Weak transcription	Lung	lung
5	chr5:68666600-68689600	Weak transcription	Aorta	Aorta
6	chr5:68666600-68689800	Weak transcription	Gastric	stomach
7	chr5:68666600-68689800	Weak transcription	Right Ventricle	heart
8	chr5:68666600-68696200	Weak transcription	Pancreas	Pancrea
9	chr5:68666600-68705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:68666600-68710800	Weak transcription	Esophagus	oesophagus
11	chr5:68666800-68676600	Weak transcription	Thymus	Thymus
12	chr5:68666800-68677800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:68666800-68677800	Weak transcription	Fetal Kidney	kidney
14	chr5:68666800-68710600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:68666800-68710600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:68666800-68710800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:68666800-68710800	Weak transcription	Psoas Muscle	Psoas
18	chr5:68667000-68677800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:68667000-68684600	Weak transcription	Fetal Heart	heart
20	chr5:68667000-68690400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:68667200-68710400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:68667200-68710800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:68667800-68677800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:68667800-68679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:68667800-68710600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:68668000-68713000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:68668800-68683600	Weak transcription	Fetal Brain Male	brain
28	chr5:68668800-68712400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:68669200-68681800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:68669600-68675000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:68669600-68675000	Strong transcription	Osteobl	bone
32	chr5:68669600-68675200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:68669600-68697600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:68669600-68701200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:68669600-68702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:68669600-68702800	Strong transcription	Liver	Liver
37	chr5:68669800-68676200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:68669800-68678400	Strong transcription	NHDF-Ad	bronchial
39	chr5:68669800-68697600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:68669800-68700400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:68669800-68700800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr5:68670200-68700800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:68670400-68675000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:68670400-68675200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:68670400-68676400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr5:68670400-68683600	Strong transcription	Adipose Nuclei	Adipose
47	chr5:68670400-68697400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:68670400-68697600	Strong transcription	Fetal Thymus	thymus
49	chr5:68670600-68675000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:68670600-68675000	Strong transcription	Brain Germinal Matrix	brain

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