Variant report

Variant	rs9551741
Chromosome Location	chr13:30350953-30350954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1058650	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11147398	0.82[ASN][1000 genomes]
rs12872400	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1323931	0.90[ASN][1000 genomes]
rs1410110	0.81[ASN][1000 genomes]
rs1854176	0.86[ASN][1000 genomes]
rs1927193	0.86[ASN][1000 genomes]
rs2025604	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2182129	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2234416	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2388246	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2388247	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35541102	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4083610	0.82[ASN][1000 genomes]
rs4238128	0.82[ASN][1000 genomes]
rs4265673	0.81[ASN][1000 genomes]
rs4297554	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4387451	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4769772	0.85[ASN][1000 genomes]
rs4769775	0.82[ASN][1000 genomes]
rs6490429	0.81[ASN][1000 genomes]
rs6490430	0.81[ASN][1000 genomes]
rs72623487	0.95[ASN][1000 genomes]
rs7320474	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7326253	0.81[ASN][1000 genomes]
rs7335148	0.81[ASN][1000 genomes]
rs7342470	0.83[ASN][1000 genomes]
rs765404	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7981622	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7995666	0.82[ASN][1000 genomes]
rs9314972	0.86[ASN][1000 genomes]
rs9314973	0.86[ASN][1000 genomes]
rs9314974	0.86[ASN][1000 genomes]
rs9314975	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9314978	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9506226	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9506229	0.81[ASN][1000 genomes]
rs9506231	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9506233	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9508550	0.86[ASN][1000 genomes]
rs9508553	0.89[ASN][1000 genomes]
rs9508554	0.82[ASN][1000 genomes]
rs9508557	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9508558	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9508559	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508560	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9508561	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9508564	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9551739	0.85[ASN][1000 genomes]
rs9551751	0.84[ASN][1000 genomes]
rs9551753	0.82[EUR][1000 genomes]
rs9578136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9578139	0.81[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30328800-30351800	Weak transcription	NH-A	brain
2	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:30333200-30353800	Weak transcription	Gastric	stomach
6	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
7	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
8	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
11	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
13	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:30337800-30359800	Weak transcription	HMEC	breast
15	chr13:30338400-30354000	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:30338400-30360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:30338400-30360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:30338600-30357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:30339000-30360200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr13:30341400-30352200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr13:30341400-30360200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:30341600-30353000	Weak transcription	Fetal Intestine Large	intestine
25	chr13:30341600-30356800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr13:30341600-30357200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:30341600-30360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:30341800-30351000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:30341800-30353800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr13:30341800-30354000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:30341800-30354400	Weak transcription	Adipose Nuclei	Adipose
32	chr13:30341800-30359800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr13:30341800-30360200	Weak transcription	Left Ventricle	heart
34	chr13:30341800-30360400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:30341800-30363600	Weak transcription	HSMM	muscle
36	chr13:30341800-30365000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr13:30342000-30351800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:30342000-30356800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:30342000-30357000	Weak transcription	NHDF-Ad	bronchial
40	chr13:30342000-30359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:30343400-30356600	Weak transcription	Liver	Liver
42	chr13:30343800-30360200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr13:30344000-30353000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr13:30344000-30357000	Weak transcription	Osteobl	bone
45	chr13:30344200-30351600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr13:30344200-30351600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr13:30344400-30359600	Weak transcription	Primary T cells from cord blood	blood
48	chr13:30344400-30360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:30345800-30360200	Weak transcription	Small Intestine	intestine
50	chr13:30346600-30359800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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