Variant report

Variant	rs1395869
Chromosome Location	chr2:189465876-189465877
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189464505..189467171-chr2:189493961..189496240,2	MCF-7	breast:
2	chr2:189461232..189465911-chr2:189467782..189472229,8	MCF-7	breast:
3	chr2:189465598..189467415-chr2:189847399..189849894,2	MCF-7	breast:
4	chr2:189451828..189455201-chr2:189463415..189466933,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1092261	0.90[EUR][1000 genomes]
rs11686702	0.82[EUR][1000 genomes]
rs12693504	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13007902	0.83[EUR][1000 genomes]
rs1354902	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1395867	0.93[EUR][1000 genomes]
rs1507562	0.93[EUR][1000 genomes]
rs1605460	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16830169	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2678360	0.84[EUR][1000 genomes]
rs2882532	0.82[EUR][1000 genomes]
rs2945414	0.84[EUR][1000 genomes]
rs3935690	0.82[EUR][1000 genomes]
rs4146571	0.82[EUR][1000 genomes]
rs6434291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6434292	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs698570	0.83[EUR][1000 genomes]
rs698571	0.83[EUR][1000 genomes]
rs7425417	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs7577912	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781264	0.83[EUR][1000 genomes]
rs781283	0.82[CEU][hapmap]
rs781284	0.82[CEU][hapmap]
rs781286	0.82[CEU][hapmap]
rs781288	0.82[CEU][hapmap]
rs781454	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189450400-189470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
3	chr2:189461800-189470600	Weak transcription	Placenta	Placenta
4	chr2:189462800-189468200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189463000-189466400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:189463000-189467600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:189463200-189466800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:189463400-189466400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:189463400-189466400	Enhancers	HSMMtube	muscle
10	chr2:189464000-189466400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:189464000-189466600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:189464200-189475400	Weak transcription	Right Atrium	heart
13	chr2:189464400-189474400	Weak transcription	Fetal Lung	lung
14	chr2:189464600-189466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:189464600-189466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:189465000-189466600	Enhancers	NHLF	lung
17	chr2:189465200-189466200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:189465400-189466400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:189465600-189466000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:189465600-189466000	Weak transcription	HSMM	muscle
21	chr2:189465600-189466000	Weak transcription	NHDF-Ad	bronchial
22	chr2:189465800-189466800	Weak transcription	NH-A	brain

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