Variant report

Variant	rs11904835
Chromosome Location	chr2:189409097-189409098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189402975..189404996-chr2:189407067..189409618,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10153666	1.00[AMR][1000 genomes]
rs10190630	1.00[AMR][1000 genomes]
rs10192679	1.00[AMR][1000 genomes]
rs10197598	1.00[AMR][1000 genomes]
rs10198965	1.00[AMR][1000 genomes]
rs10207510	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs10211425	1.00[AMR][1000 genomes]
rs10432433	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10439261	1.00[AMR][1000 genomes]
rs10804022	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10931365	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs13386579	1.00[AMR][1000 genomes]
rs13391799	1.00[AMR][1000 genomes]
rs13392080	1.00[AMR][1000 genomes]
rs13399616	0.92[YRI][hapmap]
rs13399903	1.00[AMR][1000 genomes]
rs13401242	1.00[AMR][1000 genomes]
rs13401321	1.00[AMR][1000 genomes]
rs13401975	1.00[AMR][1000 genomes]
rs13402240	1.00[AMR][1000 genomes]
rs13403508	0.84[YRI][hapmap]
rs13403672	1.00[AMR][1000 genomes]
rs13404901	1.00[AMR][1000 genomes]
rs13411351	1.00[AMR][1000 genomes]
rs13414813	1.00[AMR][1000 genomes]
rs13418323	1.00[AMR][1000 genomes]
rs13423468	1.00[AMR][1000 genomes]
rs13424443	1.00[AMR][1000 genomes]
rs13426900	1.00[AFR][1000 genomes]
rs28528331	1.00[AMR][1000 genomes]
rs4667230	0.86[AFR][1000 genomes]
rs4667232	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59080597	1.00[AMR][1000 genomes]
rs6434282	0.92[YRI][hapmap]
rs6434283	0.92[YRI][hapmap]
rs6434284	0.85[AFR][1000 genomes]
rs6434287	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6705869	1.00[AMR][1000 genomes]
rs6736780	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6742748	1.00[AMR][1000 genomes]
rs6744742	0.92[YRI][hapmap]
rs6748075	1.00[AMR][1000 genomes]
rs6756264	0.81[AFR][1000 genomes]
rs6761280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7423329	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7423378	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7580259	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7592288	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7593824	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9288156	1.00[AMR][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	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
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189383200-189422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
3	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189388200-189434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:189395000-189415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:189395000-189421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:189395000-189422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:189395400-189421800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:189396000-189413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:189400200-189420000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:189401600-189420200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:189406800-189422400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:189406800-189425800	Weak transcription	Aorta	Aorta
14	chr2:189408000-189409600	Strong transcription	Fetal Lung	lung

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