Variant report

Variant	rs604252
Chromosome Location	chr11:75247968-75247969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75103304..75105577-chr11:75246366..75248058,2	MCF-7	breast:
2	chr11:75247004..75250213-chr11:75275515..75278123,3	MCF-7	breast:
3	chr11:75246882..75249765-chr11:75272059..75274482,4	MCF-7	breast:
4	chr11:75239665..75242198-chr11:75245869..75248742,3	MCF-7	breast:
5	chr11:75166849..75168397-chr11:75246511..75248333,2	MCF-7	breast:
6	chr11:75246624..75248385-chr11:75263856..75266682,2	K562	blood:
7	chr11:75244386..75247069-chr11:75247127..75249413,4	K562	blood:
8	chr11:75155749..75157595-chr11:75246033..75248841,2	MCF-7	breast:
9	chr11:75108992..75111973-chr11:75244892..75248363,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1557472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1557473	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1630251	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1631039	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783552	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590260	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs598186	0.83[AFR][1000 genomes]
rs600867	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs607775	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614227	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs615983	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616422	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs630776	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs633602	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs634530	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs634890	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs686084	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924708	0.84[ASN][1000 genomes]
rs7934513	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7949062	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7949091	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75237800-75258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:75238000-75248400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:75243600-75248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:75243600-75248400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:75243600-75248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:75243600-75250600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:75243600-75258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:75244800-75249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:75245200-75248400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:75245200-75250000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:75245400-75248800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:75245600-75249800	Enhancers	Spleen	Spleen
13	chr11:75245800-75248000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:75245800-75248000	Weak transcription	HUVEC	blood vessel
15	chr11:75245800-75248200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:75245800-75250400	Weak transcription	HSMMtube	muscle
17	chr11:75245800-75254600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:75246000-75248000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:75246000-75248400	Weak transcription	Adipose Nuclei	Adipose
20	chr11:75246200-75248400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:75246400-75248200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:75246400-75248600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:75246400-75249400	Weak transcription	Ovary	ovary
24	chr11:75246400-75265800	Weak transcription	Right Atrium	heart
25	chr11:75246600-75248000	Weak transcription	Fetal Thymus	thymus
26	chr11:75246600-75248200	Weak transcription	Placenta	Placenta
27	chr11:75246600-75250000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:75246600-75251400	Enhancers	K562	blood
29	chr11:75246600-75252200	Weak transcription	Fetal Intestine Small	intestine
30	chr11:75246800-75249600	Weak transcription	Fetal Heart	heart
31	chr11:75247000-75248200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:75247200-75248000	Enhancers	Hela-S3	cervix
33	chr11:75247400-75248000	Enhancers	GM12878-XiMat	blood
34	chr11:75247400-75248800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:75247400-75249000	Enhancers	A549	lung
36	chr11:75247400-75249200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:75247600-75248000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:75247600-75248600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:75247600-75248600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:75247600-75248600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:75247600-75249400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:75247800-75248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:75247800-75248600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:75247800-75249000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:75247800-75249600	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links