Variant report

Variant	rs2250288
Chromosome Location	chr1:160952300-160952301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160945130..160946892-chr1:160950463..160952430,2	K562	blood:
2	chr1:160952049..160953710-chr1:160957202..160960136,2	K562	blood:
3	chr1:160939974..160941495-chr1:160951029..160953259,2	MCF-7	breast:
4	chr1:160948860..160950429-chr1:160950620..160952705,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12723902	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12743772	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2243479	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2246593	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2246598	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2249532	0.87[EUR][1000 genomes]
rs2481072	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2483143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2483144	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483148	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28365978	0.87[ASN][1000 genomes]
rs2988723	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2990700	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2990701	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2990704	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2990705	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3007156	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3007157	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656975	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7530765	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7546890	0.87[ASN][1000 genomes]
rs9427367	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2250288	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160943200-160959800	Weak transcription	Pancreas	Pancrea
2	chr1:160948600-160968000	Weak transcription	Ovary	ovary
3	chr1:160951000-160952400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:160951200-160952400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:160951200-160952400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr1:160951200-160952400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:160951200-160952400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
8	chr1:160951400-160952400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:160951400-160952400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:160951600-160952400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:160951800-160952400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:160951800-160952400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:160951800-160952400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:160951800-160952400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:160951800-160952400	Enhancers	Gastric	stomach
16	chr1:160952000-160952400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:160952000-160952400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:160952000-160952400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr1:160952000-160952400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr1:160952000-160952400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr1:160952000-160952400	Bivalent Enhancer	Fetal Heart	heart
22	chr1:160952000-160952400	Enhancers	Left Ventricle	heart
23	chr1:160952000-160952400	Bivalent Enhancer	Lung	lung
24	chr1:160952200-160952400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:160952200-160952400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:160952200-160952400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr1:160952200-160952400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr1:160952200-160952400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:160952200-160952400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:160952200-160952400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr1:160952200-160952400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:160952200-160952400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:160952200-160952400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:160952200-160952400	Bivalent Enhancer	Small Intestine	intestine
35	chr1:160952200-160952400	Enhancers	GM12878-XiMat	blood
36	chr1:160952200-160952400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr1:160952200-160953800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:160952200-160956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:160952200-160964400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:160952200-160967000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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