Variant report

Variant	rs4594713
Chromosome Location	chr4:26693934-26693935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10008576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10020584	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10023756	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1027153	1.00[EUR][1000 genomes]
rs10428307	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10428308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10470786	1.00[MEX][hapmap]
rs10805265	1.00[MEX][hapmap]
rs11937874	0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs11944695	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11947882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs166353	1.00[MEX][hapmap]
rs28414180	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695240	1.00[AMR][1000 genomes]
rs28766106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28793097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28843988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4285073	0.91[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4488926	1.00[EUR][1000 genomes]
rs4583745	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57601989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57977934	1.00[EUR][1000 genomes]
rs58733183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60468513	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6448468	1.00[EUR][1000 genomes]
rs6823764	1.00[EUR][1000 genomes]
rs6833670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73114618	1.00[EUR][1000 genomes]
rs73114637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73114668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73114683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7660813	1.00[EUR][1000 genomes]
rs7667400	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7669392	0.91[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7672066	1.00[MEX][hapmap]
rs7674106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674362	0.83[ASW][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7674636	1.00[EUR][1000 genomes]
rs7681685	1.00[EUR][1000 genomes]
rs7686313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7689000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9654108	1.00[EUR][1000 genomes]
rs9990815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995160	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522423	chr4:26625185-26706342	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv878768	chr4:26625185-26766687	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv524115	chr4:26631178-26706342	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1822380	chr4:26690284-26726780	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26642400-26697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:26663800-26694000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:26666800-26732200	Weak transcription	Aorta	Aorta
4	chr4:26681400-26694800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:26681400-26695200	Weak transcription	Lung	lung
6	chr4:26681400-26695400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:26681400-26697000	Weak transcription	Esophagus	oesophagus
8	chr4:26681400-26732400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:26681600-26695600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:26681800-26694200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:26681800-26694200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:26681800-26695800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:26681800-26696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:26681800-26696800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:26681800-26718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:26681800-26724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:26683200-26695600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:26684000-26694400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:26684000-26695000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:26684400-26732400	Weak transcription	Fetal Kidney	kidney
21	chr4:26686200-26694000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:26686200-26695000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:26686200-26696400	Weak transcription	Gastric	stomach
24	chr4:26687000-26727000	Weak transcription	Left Ventricle	heart
25	chr4:26687400-26694200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:26689000-26694400	Weak transcription	Fetal Brain Male	brain
27	chr4:26689600-26696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:26690000-26696800	Weak transcription	NHEK	skin
29	chr4:26690200-26694000	Weak transcription	NH-A	brain
30	chr4:26690200-26694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:26691200-26695800	Strong transcription	Fetal Thymus	thymus
32	chr4:26692200-26694000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:26692200-26694000	Weak transcription	HSMMtube	muscle
34	chr4:26692200-26694800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:26692200-26695000	Weak transcription	Thymus	Thymus
36	chr4:26692200-26696800	Weak transcription	Psoas Muscle	Psoas
37	chr4:26692200-26697200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr4:26692200-26698600	Weak transcription	Primary T cells from cord blood	blood
39	chr4:26692200-26712200	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:26692400-26696400	Weak transcription	Fetal Brain Female	brain
41	chr4:26692400-26726400	Weak transcription	Ovary	ovary
42	chr4:26692600-26694200	Weak transcription	Liver	Liver
43	chr4:26692600-26694200	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:26692600-26694600	Enhancers	K562	blood
45	chr4:26692800-26694000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:26692800-26694600	Weak transcription	Brain Substantia Nigra	brain
47	chr4:26692800-26695000	Weak transcription	Primary B cells from cord blood	blood
48	chr4:26692800-26699600	Weak transcription	Dnd41	blood
49	chr4:26693000-26694200	Strong transcription	Fetal Stomach	stomach
50	chr4:26693000-26697200	Weak transcription	Adipose Nuclei	Adipose

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