Variant report

Variant	rs2297353
Chromosome Location	chr9:93404408-93404409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1542479	0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs16906728	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2297354	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735395	0.87[ASN][1000 genomes]
rs72744799	0.86[ASN][1000 genomes]
rs72744801	0.86[ASN][1000 genomes]
rs72746503	0.86[ASN][1000 genomes]
rs72746505	0.86[ASN][1000 genomes]
rs72746506	0.81[ASN][1000 genomes]
rs72746508	0.86[ASN][1000 genomes]
rs72746510	0.86[ASN][1000 genomes]
rs72757615	0.86[ASN][1000 genomes]
rs72757616	0.86[ASN][1000 genomes]
rs72757617	0.86[ASN][1000 genomes]
rs72757620	0.86[ASN][1000 genomes]
rs72757623	0.88[ASN][1000 genomes]
rs72757626	0.94[ASN][1000 genomes]
rs72757629	0.94[ASN][1000 genomes]
rs72757630	0.94[ASN][1000 genomes]
rs72757631	0.94[ASN][1000 genomes]
rs72757639	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv893566	chr9:93209923-93439259	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv482757	chr9:93356095-93543903	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93401800-93405600	Active TSS	Brain Angular Gyrus	brain
2	chr9:93402200-93405600	Active TSS	Brain Cingulate Gyrus	brain
3	chr9:93402200-93405600	Active TSS	Brain Hippocampus Middle	brain
4	chr9:93402200-93405600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:93402800-93406000	Active TSS	Brain Anterior Caudate	brain
6	chr9:93403200-93406000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr9:93403600-93405000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:93403600-93405600	Active TSS	Fetal Brain Male	brain
9	chr9:93403800-93405800	Active TSS	Brain Germinal Matrix	brain
10	chr9:93404000-93405000	Bivalent/Poised TSS	Fetal Kidney	kidney
11	chr9:93404000-93405800	Active TSS	Brain Substantia Nigra	brain
12	chr9:93404200-93404600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:93404200-93404600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:93404200-93404600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr9:93404200-93404600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr9:93404200-93404600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr9:93404200-93404800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:93404200-93405000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr9:93404200-93405400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:93404200-93405600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:93404200-93405800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr9:93404200-93405800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr9:93404400-93404600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr9:93404400-93404600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:93404400-93404600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:93404400-93404600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:93404400-93404600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr9:93404400-93404600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr9:93404400-93404600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr9:93404400-93404600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr9:93404400-93404800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:93404400-93404800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:93404400-93404800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
34	chr9:93404400-93404800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr9:93404400-93404800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr9:93404400-93404800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:93404400-93404800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:93404400-93404800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr9:93404400-93404800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:93404400-93404800	Bivalent Enhancer	Fetal Lung	lung
41	chr9:93404400-93404800	Active TSS	Pancreas	Pancrea
42	chr9:93404400-93404800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
43	chr9:93404400-93404800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr9:93404400-93404800	Bivalent Enhancer	NH-A	brain
45	chr9:93404400-93405000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
46	chr9:93404400-93405200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr9:93404400-93405400	Bivalent/Poised TSS	Stomach Mucosa	stomach
48	chr9:93404400-93405600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr9:93404400-93405800	Active TSS	Fetal Brain Female	brain

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