Variant report

Variant	rs17014896
Chromosome Location	chr4:89927509-89927510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10516824	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs16996151	1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014898	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014901	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17014931	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014934	1.00[YRI][hapmap]
rs17014939	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014952	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014954	0.87[AFR][1000 genomes]
rs17014962	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014966	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014977	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014983	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17015012	1.00[YRI][hapmap]
rs56749689	0.87[AFR][1000 genomes]
rs60843670	0.87[AFR][1000 genomes]
rs61049728	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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 target site	10 gene(s)	inside rSNPs	diseases
6	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89878400-89927600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:89896800-89934800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:89903000-89957200	Weak transcription	HSMM	muscle
4	chr4:89903400-89936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:89904200-89927600	Weak transcription	Pancreas	Pancrea
6	chr4:89909800-89931200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:89910400-89927600	Weak transcription	Ovary	ovary
8	chr4:89911400-89930400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:89912200-89935800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:89912200-89943800	Weak transcription	Psoas Muscle	Psoas
11	chr4:89912400-89927600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:89913400-89930800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:89913400-89944000	Weak transcription	Gastric	stomach
14	chr4:89920400-89937000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:89921000-89930000	Weak transcription	Liver	Liver
16	chr4:89921000-89950600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:89922000-89927600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:89922400-89936000	Weak transcription	Adipose Nuclei	Adipose
19	chr4:89922600-89927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:89922600-89932600	Weak transcription	NHDF-Ad	bronchial
21	chr4:89922600-89935000	Weak transcription	Placenta	Placenta
22	chr4:89922600-89936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:89922600-89949800	Weak transcription	HMEC	breast
24	chr4:89922800-89927600	Weak transcription	HepG2	liver
25	chr4:89922800-89931800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:89922800-89935800	Weak transcription	HUVEC	blood vessel
27	chr4:89922800-89945600	Weak transcription	A549	lung
28	chr4:89923000-89932200	Weak transcription	Osteobl	bone
29	chr4:89923000-89935000	Weak transcription	Fetal Kidney	kidney
30	chr4:89923400-89939400	Weak transcription	Primary T cells from cord blood	blood
31	chr4:89923600-89927600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:89923600-89927600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:89923600-89930800	Weak transcription	Small Intestine	intestine
34	chr4:89923600-89945600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:89923800-89927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:89923800-89928800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:89923800-89930400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:89923800-89936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:89923800-89936000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:89923800-89937000	Weak transcription	Fetal Heart	heart
41	chr4:89923800-89943800	Weak transcription	Right Atrium	heart
42	chr4:89923800-89944400	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:89924000-89927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:89924400-89927800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:89924400-89934000	Weak transcription	Fetal Brain Female	brain
46	chr4:89925000-89931600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:89925400-89937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:89925600-89939400	Weak transcription	Aorta	Aorta
49	chr4:89926000-89927600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:89926000-89936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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