Variant report

Variant	rs4278900
Chromosome Location	chr2:189274511-189274512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189271625..189274546-chr2:189280305..189282747,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10460383	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931347	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10931350	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11688935	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12613370	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693496	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13014162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34711211	1.00[ASN][1000 genomes]
rs35103373	0.81[ASN][1000 genomes]
rs35409022	0.90[ASN][1000 genomes]
rs4233800	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4292061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353610	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4353611	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4446047	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4505490	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6434274	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6434275	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6434276	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6434279	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67050668	0.90[ASN][1000 genomes]
rs6711599	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723034	0.90[ASN][1000 genomes]
rs6727073	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72896867	0.81[ASN][1000 genomes]
rs72896889	0.81[ASN][1000 genomes]
rs72911485	0.81[ASN][1000 genomes]
rs72913310	0.81[ASN][1000 genomes]
rs72913317	0.81[ASN][1000 genomes]
rs72913357	0.81[ASN][1000 genomes]
rs72913372	0.81[ASN][1000 genomes]
rs7419883	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7424417	0.81[ASN][1000 genomes]
rs7559636	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575702	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7577484	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7579249	0.81[ASN][1000 genomes]
rs7585851	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv9852	chr2:189267263-189277181	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189251000-189285200	Weak transcription	Aorta	Aorta
2	chr2:189264000-189283800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:189268600-189279800	Weak transcription	NHLF	lung
4	chr2:189270400-189276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:189270600-189281000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:189270600-189285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:189270600-189285200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:189270800-189276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:189271000-189275200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:189271000-189278400	Weak transcription	A549	lung
11	chr2:189271000-189285200	Weak transcription	Fetal Lung	lung
12	chr2:189273000-189274800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:189273000-189274800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:189273000-189277000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:189273400-189275800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:189273800-189274600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:189273800-189275600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:189274000-189274800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:189274200-189275000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links