Variant report

Variant	rs1867280
Chromosome Location	chr9:100616066-100616067
allele	C/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:51)

rs_ID	r²[population]
rs10046805	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10113907	0.81[AFR][1000 genomes]
rs10119795	0.82[AFR][1000 genomes]
rs10120412	0.85[AMR][1000 genomes]
rs10122541	0.85[AMR][1000 genomes]
rs10123699	0.81[AMR][1000 genomes]
rs10759981	0.82[AMR][1000 genomes]
rs10818124	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10818133	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10818175	0.82[AMR][1000 genomes]
rs10984103	0.81[AMR][1000 genomes]
rs12341377	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12342417	0.81[AMR][1000 genomes]
rs12343182	0.85[AMR][1000 genomes]
rs12347191	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12348304	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12348691	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13299924	0.85[AMR][1000 genomes]
rs13300874	0.82[AFR][1000 genomes]
rs13302470	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1443434	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1443435	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1443436	0.82[AMR][1000 genomes]
rs1867277	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1867278	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1955143	0.82[AMR][1000 genomes]
rs1955144	0.82[AMR][1000 genomes]
rs1955145	0.82[AMR][1000 genomes]
rs2401639	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2417575	0.85[AMR][1000 genomes]
rs2417576	0.85[AMR][1000 genomes]
rs3021526	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758248	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3758249	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3758251	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4460498	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6478437	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7033315	0.83[AFR][1000 genomes]
rs7037175	0.82[AMR][1000 genomes]
rs7043516	0.82[AFR][1000 genomes]
rs72753507	0.82[AFR][1000 genomes]
rs72753509	0.82[AFR][1000 genomes]
rs7357707	0.83[AFR][1000 genomes]
rs7851552	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7851660	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7860144	0.85[AMR][1000 genomes]
rs7868534	0.80[AMR][1000 genomes]
rs874004	0.84[AFR][1000 genomes]
rs894673	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs907577	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs925487	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv6627	chr9:100576258-100621034	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv825000	chr9:100613121-100618319	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3330300	chr9:100613506-100618154	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3421459	chr9:100614656-100617704	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100613400-100618800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:100613600-100618000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:100613800-100616200	Bivalent Enhancer	Liver	Liver
4	chr9:100613800-100616400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:100613800-100616400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr9:100613800-100616400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr9:100613800-100616400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr9:100613800-100616600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:100613800-100616800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:100613800-100617400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr9:100613800-100617800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr9:100614000-100616400	Bivalent Enhancer	Lung	lung
13	chr9:100614000-100616600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr9:100614000-100617800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr9:100614000-100617800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:100614400-100616400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr9:100614400-100616400	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr9:100614600-100616400	Bivalent Enhancer	Fetal Brain Male	brain
19	chr9:100614600-100616400	Bivalent Enhancer	Left Ventricle	heart
20	chr9:100614600-100616600	Bivalent Enhancer	Placenta	Placenta
21	chr9:100614800-100616600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
22	chr9:100615000-100616200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr9:100615000-100616600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
24	chr9:100615000-100616800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr9:100615000-100617000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:100615000-100617000	Bivalent/Poised TSS	NHEK	skin
27	chr9:100615200-100616200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:100615200-100616200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr9:100615200-100616200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
30	chr9:100615200-100616200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
31	chr9:100615200-100616600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
32	chr9:100615200-100616800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr9:100615200-100617000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:100615200-100617000	Bivalent/Poised TSS	HSMM	muscle
35	chr9:100615200-100617200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:100615400-100616200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr9:100615400-100616400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
38	chr9:100615400-100616600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr9:100615400-100616600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:100615400-100616600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:100615400-100616600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:100615400-100616600	Flanking Active TSS	Pancreas	Pancrea
43	chr9:100615400-100616600	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr9:100615400-100616800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:100615600-100616200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:100615600-100616200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr9:100615600-100616200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:100615600-100616200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:100615600-100616200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr9:100615600-100616200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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