Variant report

Variant	rs7849591
Chromosome Location	chr9:1052686-1052687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10123391	1.00[EUR][1000 genomes]
rs16927276	1.00[EUR][1000 genomes]
rs55828934	1.00[EUR][1000 genomes]
rs55837253	1.00[EUR][1000 genomes]
rs6474554	1.00[EUR][1000 genomes]
rs72703236	1.00[EUR][1000 genomes]
rs72703237	1.00[EUR][1000 genomes]
rs72703240	1.00[EUR][1000 genomes]
rs73380434	1.00[EUR][1000 genomes]
rs73384624	1.00[EUR][1000 genomes]
rs73386575	1.00[EUR][1000 genomes]
rs73386576	1.00[EUR][1000 genomes]
rs756347	1.00[EUR][1000 genomes]
rs7848639	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025492	chr9:478813-1157169	Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv539897	chr9:478813-1157169	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv613037	chr9:643453-1138368	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv817248	chr9:706283-1457665	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv892010	chr9:841152-1069663	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1034070	chr9:911265-1152351	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1016222	chr9:999390-1284180	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025752	chr9:1003311-1124524	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1027466	chr9:1007196-1097053	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1033117	chr9:1007196-1129306	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1016321	chr9:1034594-1592366	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv539908	chr9:1034594-1592366	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3420946	chr9:1050577-1053125	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv948914	chr9:1050981-1311310	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1049600-1053400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
2	chr9:1049800-1053000	Active TSS	Psoas Muscle	Psoas
3	chr9:1049800-1053200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr9:1049800-1053200	Bivalent Enhancer	Liver	Liver
5	chr9:1050000-1052800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:1050000-1053200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr9:1050000-1053400	Bivalent/Poised TSS	Thymus	Thymus
8	chr9:1050400-1053200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr9:1050600-1053000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr9:1050600-1053200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr9:1051200-1052800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr9:1051200-1053400	Bivalent Enhancer	Spleen	Spleen
13	chr9:1051400-1052800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr9:1051400-1053200	Enhancers	Gastric	stomach
15	chr9:1051600-1052800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
16	chr9:1051600-1053000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr9:1051600-1053000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
18	chr9:1051600-1053200	Bivalent Enhancer	Lung	lung
19	chr9:1051600-1053200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr9:1051600-1053400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
21	chr9:1052000-1053000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
22	chr9:1052000-1053000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr9:1052000-1053000	Bivalent Enhancer	Fetal Heart	heart
24	chr9:1052000-1053200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
25	chr9:1052000-1053200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr9:1052200-1052800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr9:1052200-1052800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
28	chr9:1052200-1052800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:1052200-1053000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
30	chr9:1052200-1053000	Bivalent Enhancer	Fetal Lung	lung
31	chr9:1052200-1053000	Flanking Active TSS	Right Ventricle	heart
32	chr9:1052200-1053200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr9:1052200-1053200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:1052200-1053200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
35	chr9:1052200-1053200	Enhancers	Pancreas	Pancrea
36	chr9:1052200-1053200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr9:1052200-1053800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr9:1052200-1053800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr9:1052200-1054000	Bivalent/Poised TSS	Fetal Thymus	thymus
40	chr9:1052400-1052800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:1052400-1052800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr9:1052400-1052800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr9:1052400-1052800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
44	chr9:1052400-1052800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr9:1052400-1052800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:1052400-1052800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:1052400-1052800	Bivalent/Poised TSS	NHEK	skin
48	chr9:1052400-1053000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:1052400-1053200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:1052400-1053200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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