Variant report

Variant	rs1968992
Chromosome Location	chr5:112555180-112555181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10035647	1.00[ASN][1000 genomes]
rs10037038	1.00[ASN][1000 genomes]
rs10069434	1.00[ASN][1000 genomes]
rs10076511	1.00[ASN][1000 genomes]
rs10213689	1.00[ASN][1000 genomes]
rs10213826	1.00[ASN][1000 genomes]
rs10519339	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10519340	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10519342	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241199	1.00[ASN][1000 genomes]
rs11951541	1.00[ASN][1000 genomes]
rs11958840	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13362511	1.00[ASN][1000 genomes]
rs17135464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135493	1.00[ASN][1000 genomes]
rs17135511	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104704	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602920	1.00[ASN][1000 genomes]
rs57696719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57948635	1.00[ASN][1000 genomes]
rs58069204	1.00[ASN][1000 genomes]
rs58237028	1.00[ASN][1000 genomes]
rs58879623	1.00[ASN][1000 genomes]
rs59101992	1.00[ASN][1000 genomes]
rs59673184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60185446	1.00[ASN][1000 genomes]
rs60590719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60727695	1.00[ASN][1000 genomes]
rs61643643	1.00[ASN][1000 genomes]
rs61692685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374390	1.00[ASN][1000 genomes]
rs634261	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6859436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859619	1.00[ASN][1000 genomes]
rs6874561	1.00[ASN][1000 genomes]
rs6878329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244736	1.00[ASN][1000 genomes]
rs73244737	1.00[ASN][1000 genomes]
rs73244738	1.00[ASN][1000 genomes]
rs73244740	1.00[ASN][1000 genomes]
rs73244742	1.00[ASN][1000 genomes]
rs73244743	1.00[ASN][1000 genomes]
rs73244754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244755	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702837	1.00[ASN][1000 genomes]
rs7708947	1.00[ASN][1000 genomes]
rs7710138	1.00[ASN][1000 genomes]
rs7723474	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9326885	1.00[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112546600-112555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:112547200-112555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:112547800-112555600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:112547800-112555800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:112548000-112555600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
7	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:112550600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:112551000-112556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:112551400-112556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:112551600-112555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:112551600-112559800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:112551800-112557000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:112551800-112557000	Weak transcription	NHDF-Ad	bronchial
17	chr5:112552000-112556800	Weak transcription	NH-A	brain
18	chr5:112552000-112557000	Weak transcription	HMEC	breast
19	chr5:112552800-112555400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:112552800-112556800	Weak transcription	NHEK	skin
21	chr5:112552800-112557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:112553000-112560200	Weak transcription	Brain Substantia Nigra	brain
23	chr5:112553200-112555200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:112553200-112555200	Enhancers	Fetal Muscle Leg	muscle
25	chr5:112553200-112555600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:112553200-112555600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:112553200-112555600	Enhancers	Fetal Stomach	stomach
28	chr5:112553200-112555800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:112553200-112555800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:112553400-112555200	Enhancers	Fetal Lung	lung
31	chr5:112553400-112555600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:112553400-112555600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:112553600-112560600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:112553800-112556800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:112553800-112556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:112553800-112558600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:112554200-112555600	Enhancers	Adipose Nuclei	Adipose
38	chr5:112554200-112556600	Weak transcription	Left Ventricle	heart
39	chr5:112554200-112556800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:112554200-112556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:112554200-112558400	Weak transcription	Psoas Muscle	Psoas
42	chr5:112554200-112559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:112554200-112559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:112554200-112561600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:112554200-112564200	Weak transcription	Small Intestine	intestine
46	chr5:112554400-112556600	Weak transcription	Right Ventricle	heart
47	chr5:112554400-112558600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:112554800-112555200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:112554800-112555200	Flanking Active TSS	HUVEC	blood vessel
50	chr5:112554800-112557400	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links