Variant report

Variant	rs1718850
Chromosome Location	chr4:57942198-57942199
allele	A/G
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:16)

rs_ID	r²[population]
rs10013945	0.92[EUR][1000 genomes]
rs10866442	0.88[EUR][1000 genomes]
rs1111628	1.00[JPT][hapmap]
rs11133477	0.88[EUR][1000 genomes]
rs11573061	1.00[JPT][hapmap]
rs1543178	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714016	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1718848	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs1718849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412776	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs4508954	0.88[EUR][1000 genomes]
rs4508955	0.88[EUR][1000 genomes]
rs6827768	0.88[EUR][1000 genomes]

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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
5	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
6	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
9	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:57937600-57942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:57937600-57944200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:57937800-57943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:57937800-57944000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:57937800-57945000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
19	chr4:57938000-57942200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:57938000-57945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:57938800-57942600	Enhancers	Right Ventricle	heart
23	chr4:57938800-57947000	Weak transcription	Esophagus	oesophagus
24	chr4:57939800-57944200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:57939800-57949800	Enhancers	HMEC	breast
26	chr4:57940000-57942200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:57940000-57942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:57940000-57943200	Enhancers	Fetal Kidney	kidney
29	chr4:57940000-57946200	Weak transcription	Lung	lung
30	chr4:57940200-57942200	Weak transcription	Right Atrium	heart
31	chr4:57940200-57942800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:57940200-57943800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:57940400-57942200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:57940400-57943800	Weak transcription	Spleen	Spleen
35	chr4:57940600-57942200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:57940600-57942200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:57940600-57942200	Weak transcription	Left Ventricle	heart
38	chr4:57940600-57942200	Enhancers	NHDF-Ad	bronchial
39	chr4:57940600-57942200	Enhancers	NHLF	lung
40	chr4:57940600-57942800	Enhancers	Colon Smooth Muscle	Colon
41	chr4:57940800-57942200	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:57940800-57942800	Enhancers	Fetal Heart	heart
43	chr4:57940800-57944200	Enhancers	A549	lung
44	chr4:57941000-57942800	Genic enhancers	NH-A	brain
45	chr4:57941200-57942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:57941200-57942200	Weak transcription	Aorta	Aorta
47	chr4:57941200-57943800	Weak transcription	HSMM	muscle
48	chr4:57941200-57944000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:57941200-57944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:57941200-57944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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