Variant report

Variant	rs1821969
Chromosome Location	chr2:111808078-111808079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111807803..111810295-chr2:111873286..111875323,2	MCF-7	breast:
2	chr2:111790298..111793489-chr2:111807175..111809652,3	MCF-7	breast:
3	chr2:111806639..111808566-chr2:111877225..111879048,2	MCF-7	breast:
4	chr2:111806683..111808783-chr2:111876731..111878831,2	MCF-7	breast:
5	chr2:111800257..111804881-chr2:111806822..111809693,5	MCF-7	breast:
6	chr2:111786604..111788790-chr2:111806791..111809985,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10187034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123325	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13000374	0.84[JPT][hapmap]
rs1898846	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2880119	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4465771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848374	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4849360	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6759108	0.93[CEU][hapmap];0.80[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111787800-111825400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111804600-111808400	Enhancers	Fetal Intestine Small	intestine
3	chr2:111804800-111808400	Enhancers	Fetal Intestine Large	intestine
4	chr2:111806600-111808200	Enhancers	Fetal Kidney	kidney
5	chr2:111806600-111808600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:111806600-111808600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:111806600-111808600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:111806600-111813400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:111806800-111808800	Bivalent Enhancer	HepG2	liver
10	chr2:111806800-111809000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:111806800-111809800	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:111806800-111810600	Enhancers	Primary T cells from cord blood	blood
13	chr2:111807000-111808600	Enhancers	Fetal Thymus	thymus
14	chr2:111807000-111809200	Enhancers	Primary B cells from cord blood	blood
15	chr2:111807200-111808200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:111807200-111808400	Enhancers	Pancreas	Pancrea
17	chr2:111807200-111810000	Enhancers	GM12878-XiMat	blood
18	chr2:111807200-111812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:111807400-111808600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:111807400-111808800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:111807600-111808600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:111807600-111808800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:111807800-111808200	Weak transcription	Thymus	Thymus
24	chr2:111807800-111809200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:111807800-111810400	Weak transcription	Fetal Heart	heart
26	chr2:111807800-111811600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:111808000-111808400	Enhancers	Stomach Mucosa	stomach
28	chr2:111808000-111808800	Enhancers	Primary T helper cells fromperipheralblood	blood

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