Variant report

Variant	rs4977248
Chromosome Location	chr9:18605769-18605770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10756981	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1889009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2000117	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2151152	0.80[EUR][1000 genomes]
rs4977387	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv428536	chr9:18512807-18667760	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv6496	chr9:18586934-18609801	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv831523	chr9:18592398-18753451	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv892694	chr9:18599029-18767830	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18592600-18605800	Weak transcription	Aorta	Aorta
2	chr9:18594200-18605800	Weak transcription	HSMMtube	muscle
3	chr9:18596000-18605800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:18602600-18605800	Weak transcription	Fetal Kidney	kidney
5	chr9:18604200-18606200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:18604200-18607000	Enhancers	Osteobl	bone
7	chr9:18604600-18605800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:18604600-18606800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:18604600-18607000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:18604600-18607000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:18604600-18607000	Enhancers	Brain Hippocampus Middle	brain
12	chr9:18604600-18607000	Enhancers	Stomach Smooth Muscle	stomach
13	chr9:18604600-18607200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:18604600-18607200	Enhancers	Brain Germinal Matrix	brain
15	chr9:18604600-18607200	Enhancers	Fetal Stomach	stomach
16	chr9:18604600-18607400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:18604600-18607400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:18604600-18607400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:18604600-18607400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr9:18604600-18607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:18604800-18605800	Enhancers	Colon Smooth Muscle	Colon
22	chr9:18604800-18606200	Enhancers	Fetal Heart	heart
23	chr9:18604800-18606600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:18604800-18606600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:18604800-18606600	Enhancers	Rectal Smooth Muscle	rectum
26	chr9:18604800-18606800	Enhancers	Brain Angular Gyrus	brain
27	chr9:18604800-18607000	Enhancers	Liver	Liver
28	chr9:18604800-18607000	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:18604800-18607200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr9:18604800-18607200	Enhancers	Brain Anterior Caudate	brain
31	chr9:18604800-18607200	Enhancers	NHDF-Ad	bronchial
32	chr9:18605000-18606200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:18605000-18607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:18605000-18607400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:18605000-18607400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:18605200-18605800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:18605200-18605800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:18605200-18605800	Weak transcription	Fetal Brain Male	brain
39	chr9:18605200-18605800	Genic enhancers	HSMM	muscle
40	chr9:18605200-18606800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr9:18605200-18607200	Enhancers	Adipose Nuclei	Adipose
42	chr9:18605400-18605800	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr9:18605400-18605800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr9:18605400-18606000	Enhancers	Fetal Brain Female	brain
45	chr9:18605400-18606000	Enhancers	Right Ventricle	heart
46	chr9:18605400-18606000	Enhancers	NHLF	lung
47	chr9:18605400-18607000	Enhancers	Fetal Muscle Leg	muscle
48	chr9:18605400-18607000	Enhancers	Ovary	ovary
49	chr9:18605600-18606600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr9:18605600-18606800	Enhancers	NH-A	brain

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