Variant report

Variant	rs72845418
Chromosome Location	chr17:60171747-60171748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60169141..60172371-chr17:60175299..60177766,3	MCF-7	breast:
2	chr17:60171136..60172772-chr17:60213380..60215934,2	K562	blood:
3	chr17:60171034..60173944-chr17:60180314..60182987,2	MCF-7	breast:
4	chr17:60171082..60173019-chr17:60180018..60181972,2	MCF-7	breast:
5	chr17:60163163..60166092-chr17:60169784..60172522,2	MCF-7	breast:
6	chr17:60139650..60144096-chr17:60169485..60173347,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11079461	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11079464	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11649711	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11870331	0.87[EUR][1000 genomes]
rs4456566	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4493126	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968469	0.84[EUR][1000 genomes]
rs4968473	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968477	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58046762	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67274807	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72845411	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72845416	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845417	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8081599	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8081812	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9303455	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889324	0.82[EUR][1000 genomes]
rs9889676	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60169600-60172800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr17:60170200-60171800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr17:60170200-60172000	Enhancers	Hela-S3	cervix
4	chr17:60170200-60172000	Enhancers	NH-A	brain
5	chr17:60170200-60172000	Enhancers	NHEK	skin
6	chr17:60170200-60173000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:60170200-60174000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:60170200-60174000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:60170200-60174000	Enhancers	HMEC	breast
10	chr17:60170400-60171800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:60170400-60171800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:60170400-60172000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:60170400-60172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:60170400-60172000	Enhancers	Duodenum Mucosa	Duodenum
15	chr17:60170400-60172000	Enhancers	NHDF-Ad	bronchial
16	chr17:60170400-60173200	Enhancers	Osteobl	bone
17	chr17:60170600-60171800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:60170600-60171800	Enhancers	Stomach Mucosa	stomach
19	chr17:60170600-60171800	Flanking Active TSS	A549	lung
20	chr17:60170600-60171800	Enhancers	HUVEC	blood vessel
21	chr17:60170600-60172000	Flanking Active TSS	GM12878-XiMat	blood
22	chr17:60170800-60171800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr17:60171000-60171800	Enhancers	Fetal Intestine Small	intestine
24	chr17:60171000-60171800	Enhancers	Spleen	Spleen
25	chr17:60171000-60175800	Weak transcription	K562	blood
26	chr17:60171200-60171800	Enhancers	Small Intestine	intestine
27	chr17:60171200-60172000	Enhancers	Pancreas	Pancrea
28	chr17:60171200-60173400	Weak transcription	HSMMtube	muscle
29	chr17:60171400-60171800	Flanking Active TSS	Liver	Liver
30	chr17:60171400-60172000	Flanking Active TSS	HepG2	liver
31	chr17:60171400-60172600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:60171400-60173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:60171400-60173400	Weak transcription	HSMM	muscle
34	chr17:60171600-60171800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr17:60171600-60172600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:60171600-60173200	Weak transcription	Aorta	Aorta
37	chr17:60171600-60175000	Weak transcription	Primary B cells from peripheral blood	blood

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