Variant report

Variant	rs552441
Chromosome Location	chr13:76377129-76377130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2025341	0.88[ASN][1000 genomes]
rs2273997	0.88[ASN][1000 genomes]
rs474240	0.90[ASN][1000 genomes]
rs583368	0.90[ASN][1000 genomes]
rs598500	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658746	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs660942	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs668008	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs674611	0.81[ASN][1000 genomes]
rs9544044	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9593129	0.93[ASN][1000 genomes]
rs9593133	0.88[ASN][1000 genomes]
rs9600555	0.93[ASN][1000 genomes]
rs9600556	0.93[ASN][1000 genomes]
rs9600558	0.88[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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76361800-76377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
4	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:76366400-76380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76366800-76379400	Weak transcription	Pancreas	Pancrea
7	chr13:76366800-76379400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:76366800-76380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:76366800-76380200	Weak transcription	Lung	lung
10	chr13:76367000-76379800	Weak transcription	Brain Angular Gyrus	brain
11	chr13:76367000-76380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:76367000-76387000	Weak transcription	Ovary	ovary
13	chr13:76367200-76377400	Weak transcription	Fetal Kidney	kidney
14	chr13:76367400-76377400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:76367400-76380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:76367400-76384400	Weak transcription	Fetal Lung	lung
17	chr13:76369600-76377400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
19	chr13:76370800-76378800	Genic enhancers	Osteobl	bone
20	chr13:76370800-76382400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:76371400-76379000	Weak transcription	Placenta	Placenta
22	chr13:76371600-76377200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:76371800-76377200	Enhancers	Fetal Heart	heart
24	chr13:76372000-76377200	Weak transcription	Small Intestine	intestine
25	chr13:76372000-76379600	Weak transcription	Colonic Mucosa	Colon
26	chr13:76372200-76378400	Weak transcription	Fetal Muscle Leg	muscle
27	chr13:76372400-76380200	Weak transcription	Gastric	stomach
28	chr13:76373000-76414600	Weak transcription	HMEC	breast
29	chr13:76373200-76377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:76373200-76379000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:76373200-76385800	Strong transcription	Hela-S3	cervix
32	chr13:76373400-76377400	Strong transcription	HSMMtube	muscle
33	chr13:76373400-76380800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:76373400-76387200	Weak transcription	Psoas Muscle	Psoas
35	chr13:76374400-76377200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr13:76374400-76377600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr13:76374400-76380200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:76374600-76380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:76374800-76377200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr13:76374800-76377200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr13:76374800-76377200	Strong transcription	HepG2	liver
42	chr13:76374800-76380600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr13:76374800-76382400	Strong transcription	Liver	Liver
44	chr13:76375000-76377200	Strong transcription	Fetal Intestine Large	intestine
45	chr13:76375000-76377200	Weak transcription	A549	lung
46	chr13:76375000-76379400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr13:76375200-76377200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:76375200-76377400	Strong transcription	NHDF-Ad	bronchial
49	chr13:76375200-76378200	Weak transcription	Aorta	Aorta
50	chr13:76375200-76383000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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