Variant report

Variant	rs1608518
Chromosome Location	chr2:168187606-168187607
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10497321	0.84[CEU][hapmap]
rs10803822	0.83[ASN][1000 genomes]
rs1523878	0.81[AMR][1000 genomes]
rs1540820	0.87[ASN][1000 genomes]
rs1540821	0.81[AMR][1000 genomes]
rs1581484	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1581485	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1589728	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16853227	0.84[CEU][hapmap]
rs16853282	0.91[CEU][hapmap]
rs16853285	0.91[CEU][hapmap]
rs16853291	0.84[CEU][hapmap]
rs16853296	0.84[CEU][hapmap]
rs16853305	0.91[CEU][hapmap]
rs16853306	0.83[CEU][hapmap]
rs16853309	0.91[CEU][hapmap]
rs16853328	0.83[CEU][hapmap]
rs16853331	0.91[CEU][hapmap]
rs16853337	0.84[CEU][hapmap]
rs16853344	0.84[CEU][hapmap]
rs1851758	0.81[ASN][1000 genomes]
rs1851759	0.86[ASN][1000 genomes]
rs1851760	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1916746	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1916747	0.88[AFR][1000 genomes]
rs2103098	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2140501	0.82[ASN][1000 genomes]
rs2177441	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2689823	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2689842	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2927600	0.90[ASN][1000 genomes]
rs3749004	0.91[CEU][hapmap]
rs3749006	0.83[CEU][hapmap]
rs6432987	0.84[CEU][hapmap]
rs6726067	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6743941	0.83[ASN][1000 genomes]
rs6747227	0.91[CEU][hapmap]
rs6759681	0.83[CEU][hapmap]
rs7573953	0.83[CEU][hapmap]
rs7576938	0.84[CEU][hapmap]
rs7580183	0.84[CEU][hapmap]
rs7581012	0.84[CEU][hapmap]
rs7581190	0.91[CEU][hapmap]
rs7593641	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594496	0.83[ASN][1000 genomes]
rs7600424	0.84[CEU][hapmap]
rs7607246	0.91[CEU][hapmap]
rs922536	0.84[CEU][hapmap]
rs922537	0.91[CEU][hapmap]
rs9287881	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9751663	0.90[ASN][1000 genomes]
rs9751666	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168185800-168187800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:168186400-168187800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:168186600-168187800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:168187000-168190400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:168187200-168187800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:168187200-168187800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:168187200-168188400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:168187400-168191200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:168187600-168187800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:168187600-168187800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:168187600-168188200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:168187600-168188200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:168187600-168188600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:168187600-168188600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:168187600-168188600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:168187600-168188800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:168187600-168189200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:168187600-168189400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:168187600-168190400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:168187600-168194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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