Variant report

Variant	rs901995
Chromosome Location	chr11:46383323-46383324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46382914..46384504-chr11:46401158..46403727,3	MCF-7	breast:
2	chr11:46352485..46355160-chr11:46382549..46384847,2	MCF-7	breast:
3	chr11:46142872..46144744-chr11:46382813..46385236,2	MCF-7	breast:
4	chr11:46383271..46387552-chr11:46403551..46406378,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110492	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1873129	1.00[ASW][hapmap]
rs2029378	1.00[ASW][hapmap]
rs2087360	1.00[ASW][hapmap]
rs33968054	1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34830450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35935319	1.00[ASW][hapmap]
rs4367921	1.00[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4376875	1.00[ASW][hapmap]
rs4550197	1.00[ASW][hapmap]
rs6485681	1.00[ASW][hapmap]
rs73466006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466016	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7928869	1.00[ASW][hapmap]
rs901994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901998	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901999	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46370000-46384000	Weak transcription	Fetal Kidney	kidney
2	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
3	chr11:46370400-46384000	Weak transcription	A549	lung
4	chr11:46374200-46384400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:46374400-46389600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:46374400-46389600	Weak transcription	Fetal Brain Female	brain
7	chr11:46376000-46389600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:46378600-46389400	Weak transcription	HepG2	liver
9	chr11:46379400-46383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:46379600-46384000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:46379600-46384000	Weak transcription	NHEK	skin
12	chr11:46381400-46386000	Enhancers	NHDF-Ad	bronchial
13	chr11:46382000-46383600	Weak transcription	Hela-S3	cervix
14	chr11:46382400-46383400	Enhancers	Fetal Heart	heart
15	chr11:46382400-46383400	Enhancers	Fetal Lung	lung
16	chr11:46382400-46383600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:46382400-46383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:46382400-46383600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:46382400-46383600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:46382400-46383800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:46382400-46383800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr11:46382400-46383800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:46382400-46383800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr11:46382400-46383800	Flanking Active TSS	Dnd41	blood
25	chr11:46382400-46384000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:46382400-46384000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr11:46382400-46384000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:46382400-46384000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:46382400-46384000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr11:46382400-46384000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:46382400-46384000	Flanking Active TSS	Fetal Thymus	thymus
32	chr11:46382400-46384200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr11:46382400-46384200	Enhancers	Esophagus	oesophagus
34	chr11:46382400-46384200	Weak transcription	Small Intestine	intestine
35	chr11:46382400-46384400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:46382400-46384400	Flanking Active TSS	GM12878-XiMat	blood
37	chr11:46382400-46384400	Flanking Active TSS	HSMMtube	muscle
38	chr11:46382400-46384600	Enhancers	HUVEC	blood vessel
39	chr11:46382400-46384600	Enhancers	NH-A	brain
40	chr11:46382400-46384800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:46382400-46385000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:46382400-46385000	Enhancers	Stomach Mucosa	stomach
43	chr11:46382400-46385000	Enhancers	Spleen	Spleen
44	chr11:46382400-46385000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:46382400-46385200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr11:46382400-46385200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:46382400-46385400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:46382400-46385600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:46382400-46385600	Enhancers	Liver	Liver
50	chr11:46382400-46385600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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