Variant report

Variant	rs12647188
Chromosome Location	chr4:100566385-100566386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10516445	0.82[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12639930	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12641768	0.87[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13105033	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13112253	0.85[CEU][hapmap]
rs13126189	0.90[ASN][1000 genomes]
rs13130949	0.91[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1352775	0.91[CEU][hapmap]
rs1491238	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2306985	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3805337	0.90[ASN][1000 genomes]
rs3828543	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4699755	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6532825	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6852647	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7659550	0.87[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7698798	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs881981	0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs959247	0.87[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs991811	0.82[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.90[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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100561800-100567400	Weak transcription	HSMMtube	muscle
2	chr4:100563400-100567000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:100563400-100567600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:100564200-100567400	Weak transcription	Pancreas	Pancrea
5	chr4:100564400-100567800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr4:100564400-100569400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:100564600-100566800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:100564600-100567600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:100564800-100566800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:100564800-100567400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr4:100565000-100566800	Weak transcription	Left Ventricle	heart
12	chr4:100565000-100567400	Weak transcription	Psoas Muscle	Psoas
13	chr4:100565000-100567600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:100565000-100567800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:100565000-100570200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:100565400-100567600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:100565400-100569400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:100565400-100569400	Weak transcription	Fetal Lung	lung
19	chr4:100565400-100569800	Weak transcription	Fetal Intestine Large	intestine
20	chr4:100565600-100566600	Enhancers	Fetal Heart	heart
21	chr4:100565800-100566400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:100565800-100566800	Active TSS	Fetal Muscle Leg	muscle
23	chr4:100565800-100570400	Active TSS	Right Ventricle	heart
24	chr4:100566000-100566400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:100566000-100566400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:100566000-100566400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr4:100566000-100566400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr4:100566000-100566800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:100566000-100566800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:100566000-100567600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:100566000-100568600	Enhancers	Ovary	ovary
32	chr4:100566200-100566400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr4:100566200-100566800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links