Variant report

Variant	rs1718834
Chromosome Location	chr4:57918904-57918905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57843657..57845582-chr4:57917251..57920235,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047315	Chromatin interaction
ENSG00000084092	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11726321	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1277297	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs13107451	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1611781	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1713954	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1713955	1.00[JPT][hapmap]
rs1713956	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1713959	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1713960	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1713961	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1713962	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713967	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713968	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1718873	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718874	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718883	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4611987	0.88[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs6554409	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7663219	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7670536	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673762	1.00[JPT][hapmap]
rs7698085	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57904800-57922200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:57910400-57921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:57911800-57919600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:57912000-57920200	Weak transcription	Aorta	Aorta
7	chr4:57913000-57921200	Weak transcription	Fetal Stomach	stomach
8	chr4:57913000-57922000	Weak transcription	NHLF	lung
9	chr4:57913000-57922600	Weak transcription	Ovary	ovary
10	chr4:57914000-57919600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:57915000-57921200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:57915200-57922400	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:57915400-57923600	Weak transcription	HSMM	muscle
14	chr4:57915600-57922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:57915600-57923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
17	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:57916000-57919400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:57916000-57919400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:57916000-57919400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:57916000-57919400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:57916000-57919400	Weak transcription	HMEC	breast
23	chr4:57916000-57919600	Weak transcription	A549	lung
24	chr4:57916000-57922000	Weak transcription	Brain Anterior Caudate	brain
25	chr4:57916600-57919000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:57916600-57919400	Strong transcription	Osteobl	bone
27	chr4:57916800-57919000	Enhancers	Right Atrium	heart
28	chr4:57917400-57919000	Enhancers	Spleen	Spleen
29	chr4:57917400-57919800	Enhancers	Psoas Muscle	Psoas
30	chr4:57917400-57920400	Enhancers	Right Ventricle	heart
31	chr4:57917600-57922200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
33	chr4:57917800-57921600	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:57917800-57922600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:57917800-57926000	Weak transcription	Fetal Kidney	kidney
36	chr4:57918000-57919000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:57918000-57921400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:57918000-57922000	Weak transcription	Fetal Heart	heart
39	chr4:57918000-57923400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
41	chr4:57918200-57919400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:57918400-57919400	Strong transcription	NHEK	skin
43	chr4:57918400-57919600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:57918600-57919400	Weak transcription	NH-A	brain
45	chr4:57918600-57919600	Weak transcription	Lung	lung
46	chr4:57918600-57921200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:57918600-57922400	Weak transcription	Fetal Intestine Small	intestine
48	chr4:57918600-57923600	Strong transcription	HSMMtube	muscle
49	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood

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