Variant report

Variant	rs34281447
Chromosome Location	chr11:67028876-67028877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67028634..67031744-chr11:67145224..67149338,6	MCF-7	breast:
2	chr11:67028872..67031497-chr11:67138430..67141652,4	K562	blood:
3	chr11:66825035..66827853-chr11:67026247..67029023,2	MCF-7	breast:
4	chr11:67028558..67031077-chr11:67114717..67116735,2	MCF-7	breast:
5	chr11:66822725..66824959-chr11:67028565..67030327,3	MCF-7	breast:
6	chr11:67028370..67030971-chr11:67119641..67121434,2	MCF-7	breast:
7	chr11:67028622..67031232-chr21:39798788..39801234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1064876	1.00[MEX][hapmap]
rs12284546	1.00[MEX][hapmap]
rs12791976	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12803635	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12803820	0.88[CHD][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2286621	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286625	1.00[MEX][hapmap]
rs2298459	1.00[JPT][hapmap]
rs34614891	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35247643	1.00[AFR][1000 genomes]
rs35590263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995489	0.83[ASN][1000 genomes]
rs36019351	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3741180	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55987642	1.00[AFR][1000 genomes]
rs61412808	0.83[ASN][1000 genomes]
rs71457758	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs71457767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71457768	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73503907	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67022400-67030000	Weak transcription	Fetal Brain Male	brain
2	chr11:67023800-67030200	Weak transcription	Fetal Kidney	kidney
3	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
4	chr11:67025000-67029600	Weak transcription	Dnd41	blood
5	chr11:67025000-67029800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:67025000-67029800	Weak transcription	Hela-S3	cervix
7	chr11:67026400-67030400	Weak transcription	Gastric	stomach
8	chr11:67028000-67031000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:67028200-67029600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:67028400-67029000	Flanking Active TSS	HepG2	liver
11	chr11:67028600-67029000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:67028600-67029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:67028600-67029000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:67028600-67029000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:67028600-67029000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr11:67028600-67029000	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr11:67028600-67029000	Flanking Active TSS	Placenta	Placenta
18	chr11:67028600-67029200	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:67028600-67029400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:67028600-67029400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:67028600-67029400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:67028600-67029400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:67028600-67029400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:67028600-67029400	Active TSS	Stomach Smooth Muscle	stomach
25	chr11:67028600-67029400	Active TSS	A549	lung
26	chr11:67028600-67029400	Active TSS	NHLF	lung
27	chr11:67028600-67029600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:67028600-67029600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr11:67028600-67029600	Enhancers	HUVEC	blood vessel
30	chr11:67028600-67029800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:67028600-67030000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:67028600-67030000	Enhancers	Adipose Nuclei	Adipose
33	chr11:67028600-67030000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:67028600-67031400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:67028600-67032200	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:67028600-67033600	Enhancers	HMEC	breast
37	chr11:67028800-67029000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:67028800-67029000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:67028800-67029000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:67028800-67029000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:67028800-67029000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:67028800-67029000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:67028800-67029000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:67028800-67029000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr11:67028800-67029000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr11:67028800-67029000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr11:67028800-67029000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr11:67028800-67029000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:67028800-67029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:67028800-67029000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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