Variant report

Variant	rs10069495
Chromosome Location	chr5:124379834-124379835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10051837	1.00[ASN][1000 genomes]
rs10061112	0.85[AFR][1000 genomes]
rs10067540	1.00[ASN][1000 genomes]
rs10069295	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070651	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070961	1.00[ASN][1000 genomes]
rs10071979	1.00[ASN][1000 genomes]
rs10072930	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169162	1.00[ASN][1000 genomes]
rs13359584	1.00[ASN][1000 genomes]
rs28484892	1.00[ASN][1000 genomes]
rs28887500	1.00[ASN][1000 genomes]
rs56111606	1.00[ASN][1000 genomes]
rs57050857	1.00[ASN][1000 genomes]
rs60700802	1.00[ASN][1000 genomes]
rs6860106	1.00[ASN][1000 genomes]
rs6867459	1.00[ASN][1000 genomes]
rs6881063	0.85[AFR][1000 genomes]
rs6883243	1.00[ASN][1000 genomes]
rs6887240	1.00[ASN][1000 genomes]
rs72785245	1.00[ASN][1000 genomes]
rs72785247	1.00[ASN][1000 genomes]
rs72785252	1.00[ASN][1000 genomes]
rs73782570	1.00[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:124377200-124380600	Enhancers	Adipose Nuclei	Adipose
3	chr5:124377200-124380600	Enhancers	Fetal Lung	lung
4	chr5:124377400-124380600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:124377400-124381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:124377400-124381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:124377600-124380000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:124377600-124380000	Enhancers	NH-A	brain
9	chr5:124377600-124380400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:124377600-124380800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:124377600-124381200	Enhancers	Fetal Kidney	kidney
12	chr5:124377600-124381800	Enhancers	NHDF-Ad	bronchial
13	chr5:124377800-124380400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:124377800-124381000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:124378000-124380800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:124378000-124385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:124378200-124380600	Enhancers	NHLF	lung
18	chr5:124378200-124384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:124378400-124382200	Enhancers	HUVEC	blood vessel
20	chr5:124378600-124381600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:124378600-124383000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:124378800-124380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:124378800-124380200	Enhancers	Colon Smooth Muscle	Colon
24	chr5:124378800-124380200	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:124378800-124380600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:124378800-124381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:124379000-124380200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:124379000-124380600	Enhancers	Liver	Liver
29	chr5:124379000-124380600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:124379000-124380800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:124379000-124380800	Enhancers	Fetal Stomach	stomach
32	chr5:124379000-124381600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:124379000-124388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:124379200-124380000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:124379200-124380200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:124379200-124380200	Enhancers	Stomach Smooth Muscle	stomach
37	chr5:124379200-124380400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:124379200-124380600	Enhancers	NHEK	skin
39	chr5:124379200-124380800	Enhancers	Fetal Heart	heart
40	chr5:124379200-124380800	Enhancers	HMEC	breast
41	chr5:124379200-124380800	Enhancers	Osteobl	bone
42	chr5:124379200-124381400	Enhancers	Fetal Brain Male	brain
43	chr5:124379200-124382800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:124379400-124380000	Enhancers	Stomach Mucosa	stomach
45	chr5:124379400-124380200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:124379400-124380200	Enhancers	Brain Substantia Nigra	brain
47	chr5:124379400-124380200	Enhancers	Ovary	ovary
48	chr5:124379400-124380400	Enhancers	Fetal Brain Female	brain
49	chr5:124379400-124380400	Flanking Active TSS	A549	lung
50	chr5:124379400-124380600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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