Variant report

Variant	rs17023081
Chromosome Location	chr4:96051304-96051305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17022924	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17023047	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28549280	1.00[AMR][1000 genomes]
rs28669077	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96016000-96060600	Weak transcription	Thymus	Thymus
2	chr4:96016600-96054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:96024200-96060600	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:96025000-96054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:96026400-96057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:96028200-96051600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:96030400-96054200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:96034200-96079200	Weak transcription	Fetal Kidney	kidney
9	chr4:96034800-96060600	Weak transcription	Ovary	ovary
10	chr4:96047400-96052400	Weak transcription	Fetal Thymus	thymus
11	chr4:96047400-96060600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:96050200-96051800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:96050200-96051800	Genic enhancers	Dnd41	blood
14	chr4:96050200-96052200	Enhancers	HSMM	muscle
15	chr4:96050400-96051600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:96050400-96051800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:96050400-96051800	Enhancers	Fetal Lung	lung
18	chr4:96050400-96051800	Enhancers	HMEC	breast
19	chr4:96050400-96051800	Enhancers	NHDF-Ad	bronchial
20	chr4:96050400-96051800	Enhancers	NHEK	skin
21	chr4:96050400-96052600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:96050400-96052600	Enhancers	NHLF	lung
23	chr4:96050600-96051400	Active TSS	A549	lung
24	chr4:96051000-96051400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:96051000-96051400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:96051000-96051400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:96051000-96051400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:96051000-96051400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:96051000-96051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:96051000-96051400	Active TSS	Aorta	Aorta
31	chr4:96051000-96051400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:96051000-96051400	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:96051000-96051400	Flanking Active TSS	HUVEC	blood vessel
34	chr4:96051000-96051800	Enhancers	Hela-S3	cervix
35	chr4:96051000-96051800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr4:96051000-96052200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:96051000-96052200	Enhancers	HSMMtube	muscle
38	chr4:96051200-96051400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:96051200-96051400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:96051200-96051400	Enhancers	Primary T cells from cord blood	blood
41	chr4:96051200-96051600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:96051200-96051800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:96051200-96051800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:96051200-96051800	Weak transcription	Fetal Intestine Small	intestine
45	chr4:96051200-96052600	Enhancers	NH-A	brain
46	chr4:96051200-96052600	Enhancers	Osteobl	bone

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