Variant report

Variant	rs4555010
Chromosome Location	chr13:111049838-111049839
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	chr13:111042974..111045248-chr13:111048592..111050627,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1536622	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4132949	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4773180	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61963204	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9555696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559785	0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559786	0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559791	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559793	0.91[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9559794	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr13:111040800-111050800	Weak transcription	Psoas Muscle	Psoas
2	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
4	chr13:111043000-111057000	Weak transcription	NHEK	skin
5	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:111043000-111060000	Weak transcription	A549	lung
7	chr13:111044000-111051000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:111045200-111056800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:111045600-111050000	Weak transcription	Fetal Kidney	kidney
10	chr13:111045600-111054200	Weak transcription	Spleen	Spleen
11	chr13:111045600-111054600	Weak transcription	HUVEC	blood vessel
12	chr13:111045600-111058200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:111046800-111050200	Enhancers	Lung	lung
15	chr13:111046800-111051600	Enhancers	Left Ventricle	heart
16	chr13:111047200-111050000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:111047800-111050600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:111048200-111050200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:111048200-111052200	Enhancers	Fetal Muscle Leg	muscle
20	chr13:111048400-111052400	Enhancers	Fetal Heart	heart
21	chr13:111048600-111050200	Enhancers	Right Atrium	heart
22	chr13:111048800-111050600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:111049000-111050000	Weak transcription	Aorta	Aorta
24	chr13:111049000-111050000	Weak transcription	Placenta	Placenta
25	chr13:111049000-111050200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:111049000-111050200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:111049200-111050200	Active TSS	Brain Cingulate Gyrus	brain
29	chr13:111049200-111051000	Enhancers	Fetal Muscle Trunk	muscle
30	chr13:111049200-111054800	Weak transcription	Fetal Intestine Small	intestine
31	chr13:111049400-111050000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:111049400-111050000	Flanking Active TSS	HSMM	muscle
33	chr13:111049400-111050200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:111049400-111050200	Flanking Active TSS	HMEC	breast
35	chr13:111049400-111050400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:111049400-111050400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr13:111049400-111050800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:111049600-111050000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:111049600-111050000	Active TSS	Ovary	ovary
40	chr13:111049600-111050000	Active TSS	Right Ventricle	heart
41	chr13:111049600-111050000	Flanking Active TSS	NH-A	brain
42	chr13:111049600-111050200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr13:111049600-111050200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:111049600-111050200	Active TSS	Brain Angular Gyrus	brain
45	chr13:111049600-111050200	Active TSS	Brain Substantia Nigra	brain
46	chr13:111049600-111050200	Flanking Active TSS	Fetal Stomach	stomach
47	chr13:111049600-111050200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr13:111049600-111050200	Flanking Active TSS	Osteobl	bone
49	chr13:111049600-111050400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:111049600-111050400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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