Variant report

Variant	rs17495248
Chromosome Location	chr6:106963562-106963563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106956104..106960979-chr6:106961358..106966072,5	MCF-7	breast:
2	chr6:106942291..106945585-chr6:106960604..106964203,3	K562	blood:

Variant related genes	Relation type
ENSG00000112297	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12523666	0.86[AFR][1000 genomes]
rs12525004	0.86[AFR][1000 genomes]
rs12526024	0.86[AFR][1000 genomes]
rs12528136	0.86[AFR][1000 genomes]
rs12528406	0.86[AFR][1000 genomes]
rs12529961	0.86[AFR][1000 genomes]
rs12530093	0.86[AFR][1000 genomes]
rs1676030	1.00[CEU][hapmap]
rs17067395	0.86[AFR][1000 genomes]
rs17067428	0.86[AFR][1000 genomes]
rs17067443	0.86[CEU][hapmap]
rs17495053	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17495512	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17495623	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17495678	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17495742	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41292422	0.86[AFR][1000 genomes]
rs41312800	0.86[AFR][1000 genomes]
rs55904932	0.86[AFR][1000 genomes]
rs59962977	0.86[AFR][1000 genomes]
rs61741114	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs66465674	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72939427	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72939431	0.85[AMR][1000 genomes]
rs72939433	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs72939434	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs72939435	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72939440	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72939443	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72941307	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72941326	1.00[AFR][1000 genomes]
rs72943042	0.86[AFR][1000 genomes]
rs72943087	0.86[AFR][1000 genomes]
rs72943092	0.86[AFR][1000 genomes]
rs72943097	0.86[AFR][1000 genomes]
rs72945007	0.86[AFR][1000 genomes]
rs72945008	0.86[AFR][1000 genomes]
rs72945013	0.86[AFR][1000 genomes]
rs72945015	0.86[AFR][1000 genomes]
rs72945018	0.86[AFR][1000 genomes]
rs72945026	0.86[AFR][1000 genomes]
rs72945029	0.86[AFR][1000 genomes]
rs72945030	0.86[AFR][1000 genomes]
rs72945035	0.86[AFR][1000 genomes]
rs72945036	0.86[AFR][1000 genomes]
rs72945040	0.86[AFR][1000 genomes]
rs72945045	0.86[AFR][1000 genomes]
rs72945046	0.86[AFR][1000 genomes]
rs72945059	0.86[AFR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106959600-106963600	Active TSS	NHEK	skin
2	chr6:106961000-106963600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:106961000-106963600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr6:106961000-106963600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:106961000-106964400	Weak transcription	Spleen	Spleen
6	chr6:106961000-106966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:106961000-106967800	Weak transcription	Esophagus	oesophagus
8	chr6:106961000-106981000	Weak transcription	Lung	lung
9	chr6:106961000-107001400	Weak transcription	Gastric	stomach
10	chr6:106961200-106963800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:106961200-106968600	Weak transcription	Pancreas	Pancrea
12	chr6:106961400-106967000	Weak transcription	K562	blood
13	chr6:106961600-106963800	Weak transcription	Fetal Thymus	thymus
14	chr6:106961600-106967000	Weak transcription	HSMMtube	muscle
15	chr6:106961800-106963600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr6:106962000-106966600	Weak transcription	Osteobl	bone
17	chr6:106962000-106972800	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:106962200-106963800	Enhancers	Fetal Intestine Small	intestine
19	chr6:106962200-106964400	Weak transcription	Small Intestine	intestine
20	chr6:106962200-106966600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:106962200-106966800	Weak transcription	HSMM	muscle
22	chr6:106962200-106967000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:106962200-106967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:106962200-106967000	Weak transcription	Fetal Intestine Large	intestine
25	chr6:106962400-106964800	Enhancers	Stomach Mucosa	stomach
26	chr6:106962400-106966800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:106962400-106967000	Enhancers	Primary T cells from cord blood	blood
28	chr6:106962600-106963800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:106962600-106964400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:106962600-106964400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:106962600-106964400	Weak transcription	Thymus	Thymus
32	chr6:106962600-106966600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:106962600-106966800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr6:106962600-106967400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:106962800-106963600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr6:106962800-106966800	Weak transcription	NHLF	lung
37	chr6:106963000-106965400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:106963000-106967000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:106963000-106967800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:106963200-106963800	Weak transcription	Placenta	Placenta
41	chr6:106963200-106963800	Active TSS	GM12878-XiMat	blood
42	chr6:106963200-106963800	Weak transcription	HepG2	liver
43	chr6:106963200-106964400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:106963200-106964600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:106963200-106964600	Enhancers	NHDF-Ad	bronchial
46	chr6:106963200-106965600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:106963200-106967000	Enhancers	Primary B cells from cord blood	blood
48	chr6:106963400-106963600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:106963400-106963600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:106963400-106963800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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