Variant report

Variant	rs16945866
Chromosome Location	chr17:60188609-60188610
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60003848..60005756-chr17:60187970..60190713,3	MCF-7	breast:
2	chr17:60188080..60190050-chr20:55682221..55684850,3	MCF-7	breast:
3	chr17:60188053..60192385-chr20:45784713..45789778,14	MCF-7	breast:
4	chr17:60094719..60096261-chr17:60187728..60188632,14	MCF-7	breast:
5	chr17:60093422..60097278-chr17:60186745..60191637,29	MCF-7	breast:
6	chr17:60186965..60191776-chr20:54152966..54157696,6	MCF-7	breast:
7	chr17:60186973..60190925-chr20:55681139..55684614,3	MCF-7	breast:
8	chr17:60187748..60189307-chr20:54152835..54155153,2	MCF-7	breast:
9	chr17:60186794..60189377-chr20:54157916..54161638,5	MCF-7	breast:
10	chr17:60187813..60190725-chr17:60206302..60210046,4	MCF-7	breast:
11	chr17:60094884..60097281-chr17:60186748..60190045,19	MCF-7	breast:
12	chr17:60188397..60191071-chr17:61039225..61042201,2	MCF-7	breast:
13	chr17:60094632..60096266-chr17:60187770..60189403,13	MCF-7	breast:
14	chr17:60188307..60192311-chr20:62287762..62290776,15	MCF-7	breast:
15	chr17:60094989..60096269-chr17:60188609..60189856,6	MCF-7	breast:
16	chr17:60187598..60189344-chr17:60255712..60257679,2	MCF-7	breast:
17	chr17:60094562..60096237-chr17:60187742..60189867,14	MCF-7	breast:
18	chr17:60141029..60143438-chr17:60188400..60190520,2	K562	blood:
19	chr17:59939962..59941803-chr17:60188497..60190905,2	MCF-7	breast:
20	chr17:60188493..60192388-chr20:62287325..62290873,14	MCF-7	breast:
21	chr17:60141323..60143610-chr17:60188271..60191595,3	MCF-7	breast:
22	chr17:60186752..60188731-chr20:54155316..54157368,2	MCF-7	breast:
23	chr17:60188270..60191171-chr20:55839568..55842239,4	MCF-7	breast:
24	chr17:60187867..60190713-chr20:45768677..45771659,4	MCF-7	breast:
25	chr17:59972259..59974181-chr17:60188517..60190592,2	MCF-7	breast:
26	chr17:60187076..60192321-chr20:45784789..45789709,12	MCF-7	breast:
27	chr17:60186751..60191502-chr20:54157989..54162123,8	MCF-7	breast:
28	chr17:60188482..60192172-chr17:60192536..60195720,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258366	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000026036	Chromatin interaction
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12103770	1.00[EUR][1000 genomes]
rs28670441	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4968411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4968482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327634	1.00[EUR][1000 genomes]
rs73338410	1.00[EUR][1000 genomes]
rs73338442	1.00[EUR][1000 genomes]
rs73991963	1.00[AMR][1000 genomes]
rs8074607	1.00[EUR][1000 genomes]
rs9890405	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9894102	1.00[EUR][1000 genomes]
rs9897373	1.00[EUR][1000 genomes]
rs9897713	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898702	1.00[EUR][1000 genomes]
rs9899173	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9905100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907962	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910074	1.00[AMR][1000 genomes]
rs9913415	1.00[EUR][1000 genomes]
rs9916871	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60184200-60189200	Weak transcription	K562	blood
2	chr17:60186600-60188800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr17:60186600-60189200	Enhancers	HepG2	liver
4	chr17:60186800-60189800	Enhancers	A549	lung
5	chr17:60187000-60189000	Weak transcription	GM12878-XiMat	blood
6	chr17:60187000-60189800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:60187400-60189600	Enhancers	Duodenum Mucosa	Duodenum
8	chr17:60188000-60189400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:60188200-60189600	Enhancers	Fetal Intestine Small	intestine
10	chr17:60188400-60188800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr17:60188400-60189400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr17:60188400-60189600	Enhancers	Stomach Mucosa	stomach
13	chr17:60188400-60189800	Enhancers	Fetal Intestine Large	intestine
14	chr17:60188600-60189400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:60188600-60189400	Enhancers	Placenta	Placenta
16	chr17:60188600-60189600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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