Variant report

Variant	rs59593146
Chromosome Location	chr18:28881763-28881764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28873035..28874705-chr18:28881375..28882997,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1365290	0.88[EUR][1000 genomes]
rs16961568	0.88[EUR][1000 genomes]
rs16961573	0.88[EUR][1000 genomes]
rs16961579	0.88[EUR][1000 genomes]
rs16961588	0.88[EUR][1000 genomes]
rs16961589	0.88[EUR][1000 genomes]
rs16961590	0.88[EUR][1000 genomes]
rs16961592	0.88[EUR][1000 genomes]
rs16961601	0.88[EUR][1000 genomes]
rs16961605	0.88[EUR][1000 genomes]
rs16961609	0.88[EUR][1000 genomes]
rs16961613	0.88[EUR][1000 genomes]
rs16961641	0.93[EUR][1000 genomes]
rs16961648	0.90[EUR][1000 genomes]
rs16961657	0.90[EUR][1000 genomes]
rs16961679	0.90[EUR][1000 genomes]
rs17728400	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17801172	0.88[EUR][1000 genomes]
rs17801274	0.88[EUR][1000 genomes]
rs2912319	0.88[EUR][1000 genomes]
rs56697971	1.00[EUR][1000 genomes]
rs59592286	1.00[EUR][1000 genomes]
rs59844732	0.90[EUR][1000 genomes]
rs62087706	0.88[EUR][1000 genomes]
rs62087750	0.88[EUR][1000 genomes]
rs62087751	0.88[EUR][1000 genomes]
rs62087754	0.88[EUR][1000 genomes]
rs62087755	1.00[EUR][1000 genomes]
rs62087756	1.00[EUR][1000 genomes]
rs62088669	1.00[EUR][1000 genomes]
rs62088670	1.00[EUR][1000 genomes]
rs62088672	0.87[EUR][1000 genomes]
rs62088673	0.93[EUR][1000 genomes]
rs62088674	0.93[EUR][1000 genomes]
rs62088676	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506905	0.88[EUR][1000 genomes]
rs6506907	0.88[EUR][1000 genomes]
rs7234474	0.88[EUR][1000 genomes]
rs7237750	0.88[EUR][1000 genomes]
rs8096678	0.88[EUR][1000 genomes]
rs9966811	0.90[EUR][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	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3422577	chr18:28862003-28881811	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28877000-28883600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28880000-28882400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:28880200-28882000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:28880200-28882400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:28880400-28882000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr18:28880400-28882000	Enhancers	Fetal Muscle Leg	muscle
7	chr18:28880400-28882600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:28880400-28882600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr18:28880400-28884600	Enhancers	HMEC	breast
10	chr18:28880600-28882000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:28880600-28882000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr18:28880600-28882000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:28880600-28882000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr18:28880600-28882400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr18:28880600-28884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:28880600-28884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr18:28880600-28885200	Enhancers	NHEK	skin
18	chr18:28880800-28882000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr18:28880800-28882000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:28880800-28882200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:28880800-28883600	Weak transcription	Placenta	Placenta
22	chr18:28881000-28882000	Enhancers	Left Ventricle	heart
23	chr18:28881000-28883000	Enhancers	Fetal Intestine Large	intestine
24	chr18:28881200-28882000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:28881200-28882000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:28881200-28882200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:28881400-28882000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:28881600-28881800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr18:28881600-28882000	Weak transcription	HUVEC	blood vessel
30	chr18:28881600-28882600	Weak transcription	A549	lung
31	chr18:28881600-28883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:28881600-28883400	Weak transcription	Fetal Intestine Small	intestine

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