Variant report

Variant	rs887393
Chromosome Location	chr13:51023008-51023009
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	chr13:51021960..51023934-chr13:51029269..51032075,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10492411	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1160037	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1410111	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17074281	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17074284	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17074360	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17074368	1.00[ASN][1000 genomes]
rs17074374	0.94[EUR][1000 genomes]
rs17074379	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17074444	1.00[ASN][1000 genomes]
rs74076623	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51019200-51023600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr13:51019600-51025800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:51020800-51023400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:51021000-51023600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:51021600-51025800	Weak transcription	Pancreas	Pancrea
6	chr13:51021800-51025000	Enhancers	HUVEC	blood vessel
7	chr13:51022000-51027200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:51022200-51023200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:51022200-51023200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:51022200-51023200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:51022200-51023200	Enhancers	NHEK	skin
12	chr13:51022200-51023400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr13:51022400-51023200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:51022400-51023200	Enhancers	Fetal Muscle Leg	muscle
15	chr13:51022400-51023200	Enhancers	Right Atrium	heart
16	chr13:51022400-51023400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:51022400-51023600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:51022400-51023600	Enhancers	HMEC	breast
19	chr13:51022600-51023200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:51022600-51023200	Weak transcription	Adipose Nuclei	Adipose
21	chr13:51022600-51023400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:51022600-51023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:51022600-51023600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:51022600-51024000	Enhancers	Brain Germinal Matrix	brain
25	chr13:51022600-51034200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:51022800-51023200	Enhancers	Colon Smooth Muscle	Colon
27	chr13:51022800-51023200	Enhancers	Fetal Heart	heart
28	chr13:51022800-51023400	Enhancers	Brain Cingulate Gyrus	brain
29	chr13:51022800-51023600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:51023000-51023200	Enhancers	Left Ventricle	heart
31	chr13:51023000-51023400	Enhancers	Brain Hippocampus Middle	brain
32	chr13:51023000-51025400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:51023000-51026200	Weak transcription	Fetal Kidney	kidney
34	chr13:51023000-51027000	Weak transcription	Psoas Muscle	Psoas

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