Variant report

Variant	rs72939427
Chromosome Location	chr6:106957306-106957307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:106957300-106957450	HCM	heart:	n/a	chr6:106957437-106957446
2	CTCF	chr6:106957240-106957510	NHDF-neo	bronchial:	n/a	chr6:106957437-106957446
3	CTCF	chr6:106957280-106957430	HAc	cerebellar:	n/a	n/a
4	CTCF	chr6:106957280-106957430	AG10803	skin:	n/a	n/a
5	CTCF	chr6:106957300-106957450	GM12872	blood:	n/a	chr6:106957437-106957446
6	E2F4	chr6:106956826-106957360	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr6:106957280-106957430	GM12865	blood:	n/a	n/a
8	RAD21	chr6:106957244-106957630	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr6:106957238-106957720	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:106957300-106957450	GM12871	blood:	n/a	chr6:106957437-106957446
11	CTCF	chr6:106957280-106957430	HVMF	connective:	n/a	n/a
12	CTCF	chr6:106957300-106957450	GM12870	blood:	n/a	chr6:106957437-106957446
13	RAD21	chr6:106957291-106957592	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:106957300-106957450	GM12868	blood:	n/a	chr6:106957437-106957446

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106955204..106959628-chr6:106966256..106969365,4	K562	blood:
2	chr6:106956358..106959318-chr6:106991274..106994095,2	MCF-7	breast:

Variant related genes	Relation type
AIM1	TF binding region
ENSG00000112297	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17495053	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17495248	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17495512	0.85[AMR][1000 genomes]
rs17495623	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17495678	0.85[AMR][1000 genomes]
rs17495742	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61741114	0.86[AFR][1000 genomes]
rs66465674	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72939431	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939433	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939435	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939440	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939443	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72941307	0.86[AFR][1000 genomes]
rs72941326	0.86[AFR][1000 genomes]
rs9320170	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106945600-106957600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:106950000-106957800	Weak transcription	Pancreas	Pancrea
3	chr6:106951200-106957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:106951400-106957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:106952600-106957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:106955400-106957400	Weak transcription	Esophagus	oesophagus
7	chr6:106955600-106957400	Weak transcription	HMEC	breast
8	chr6:106956400-106957600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:106956400-106957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:106956600-106957400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:106956600-106957400	Enhancers	Adipose Nuclei	Adipose
12	chr6:106956600-106957600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr6:106956600-106958000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:106956800-106957800	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr6:106956800-106957800	Bivalent Enhancer	NHLF	lung
16	chr6:106956800-106959600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:106957000-106957400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr6:106957000-106957400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr6:106957000-106957400	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:106957000-106957400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:106957000-106957400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:106957000-106957400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:106957000-106957600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:106957000-106957600	Flanking Active TSS	Dnd41	blood
25	chr6:106957000-106957600	Bivalent Enhancer	NH-A	brain
26	chr6:106957000-106957800	Bivalent Enhancer	Fetal Lung	lung
27	chr6:106957000-106958000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:106957000-106959200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:106957000-106962800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:106957200-106957400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr6:106957200-106957400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:106957200-106957400	Enhancers	Thymus	Thymus
33	chr6:106957200-106957600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:106957200-106957600	Weak transcription	NHEK	skin
35	chr6:106957200-106958000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr6:106957200-106958800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr6:106957200-106958800	Weak transcription	Hela-S3	cervix
38	chr6:106957200-106960000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr6:106957200-106961200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:106957200-106961600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:106957200-106962800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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