Variant report

Variant	rs1718847
Chromosome Location	chr4:57942700-57942701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10009533	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573051	1.00[JPT][hapmap]
rs11573053	0.87[ASN][1000 genomes]
rs11573063	0.85[JPT][hapmap]
rs11573079	0.82[JPT][hapmap]
rs11934877	1.00[JPT][hapmap]
rs1713976	0.96[CEU][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1713977	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1713979	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713980	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1713981	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714004	0.80[CEU][hapmap]
rs1714010	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1714011	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1718844	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718845	0.85[JPT][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1718846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718851	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4865174	0.82[JPT][hapmap]
rs6835177	0.80[AMR][1000 genomes]
rs9997862	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
4	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
5	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
8	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:57937600-57944200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:57937800-57943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:57937800-57944000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:57937800-57945000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
17	chr4:57938000-57945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:57938800-57947000	Weak transcription	Esophagus	oesophagus
20	chr4:57939800-57944200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:57939800-57949800	Enhancers	HMEC	breast
22	chr4:57940000-57943200	Enhancers	Fetal Kidney	kidney
23	chr4:57940000-57946200	Weak transcription	Lung	lung
24	chr4:57940200-57942800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:57940200-57943800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:57940400-57943800	Weak transcription	Spleen	Spleen
27	chr4:57940600-57942800	Enhancers	Colon Smooth Muscle	Colon
28	chr4:57940800-57942800	Enhancers	Fetal Heart	heart
29	chr4:57940800-57944200	Enhancers	A549	lung
30	chr4:57941000-57942800	Genic enhancers	NH-A	brain
31	chr4:57941200-57943800	Weak transcription	HSMM	muscle
32	chr4:57941200-57944000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:57941200-57944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:57941200-57944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:57941200-57944800	Weak transcription	Ovary	ovary
36	chr4:57941200-57945000	Weak transcription	Small Intestine	intestine
37	chr4:57941400-57944400	Weak transcription	Fetal Intestine Small	intestine
38	chr4:57941400-57947000	Weak transcription	Brain Substantia Nigra	brain
39	chr4:57941800-57943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:57941800-57943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:57941800-57943800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:57941800-57944600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:57941800-57945000	Weak transcription	Fetal Intestine Large	intestine
44	chr4:57942000-57943000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:57942000-57943000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:57942000-57943000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr4:57942000-57943000	Genic enhancers	NHEK	skin
48	chr4:57942000-57944000	Strong transcription	HSMMtube	muscle
49	chr4:57942000-57945200	Weak transcription	Hela-S3	cervix
50	chr4:57942000-57947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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