Variant report

Variant	rs1718885
Chromosome Location	chr4:57905453-57905454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11934764	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1277275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1277281	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1277282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1277283	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1277285	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1277286	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1277289	0.84[AFR][1000 genomes]
rs1277302	0.92[AFR][1000 genomes]
rs1277307	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1277309	1.00[ASN][1000 genomes]
rs1277310	1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1708764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1713949	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1713951	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1718838	0.85[ASN][1000 genomes]
rs1718862	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1718866	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2687239	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4865171	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7687211	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57863400-57907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57889000-57910200	Weak transcription	Esophagus	oesophagus
3	chr4:57890400-57905600	Strong transcription	Osteobl	bone
4	chr4:57892000-57906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:57892000-57908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:57892200-57908000	Weak transcription	Pancreas	Pancrea
7	chr4:57893800-57906600	Weak transcription	Spleen	Spleen
8	chr4:57893800-57908000	Weak transcription	Aorta	Aorta
9	chr4:57896600-57905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:57896800-57909200	Weak transcription	Psoas Muscle	Psoas
11	chr4:57898000-57909800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:57898200-57908000	Weak transcription	Fetal Lung	lung
13	chr4:57898200-57910000	Weak transcription	Lung	lung
14	chr4:57898400-57905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:57898400-57906800	Weak transcription	Colonic Mucosa	Colon
16	chr4:57898800-57908000	Weak transcription	NHDF-Ad	bronchial
17	chr4:57898800-57917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:57899200-57914600	Weak transcription	Brain Substantia Nigra	brain
19	chr4:57899400-57905600	Weak transcription	Placenta	Placenta
20	chr4:57899400-57909800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:57899600-57909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:57899600-57913000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:57899800-57906400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:57899800-57906600	Weak transcription	Fetal Kidney	kidney
27	chr4:57899800-57909400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:57900000-57905800	Weak transcription	Right Ventricle	heart
29	chr4:57900000-57906400	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:57900000-57906400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:57900000-57906400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:57900000-57906600	Weak transcription	Ovary	ovary
33	chr4:57902200-57907200	Strong transcription	HUVEC	blood vessel
34	chr4:57902600-57905600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr4:57902600-57908400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:57902800-57907200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:57903600-57905600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:57903600-57909000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:57903800-57905600	Strong transcription	NHEK	skin
40	chr4:57904400-57905600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:57904400-57906000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:57904400-57906000	Enhancers	A549	lung
43	chr4:57904400-57906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:57904400-57907200	Genic enhancers	HSMMtube	muscle
45	chr4:57904400-57907400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:57904400-57908000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:57904400-57910200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:57904600-57905600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:57904600-57906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:57904600-57907000	Strong transcription	NH-A	brain

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