Variant report

Variant	rs4521391
Chromosome Location	chr4:158938462-158938463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10003459	0.96[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs10005901	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10027000	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10049927	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13137826	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28635553	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4072170	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4077776	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4077777	0.83[EUR][1000 genomes]
rs4388135	0.89[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs4487405	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4504305	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4574459	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4615226	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4631100	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4691447	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6536298	0.81[CEU][hapmap]
rs66490968	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6814979	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs6833295	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs6843728	0.96[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs6847800	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848159	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7657303	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7673290	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682867	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7692254	0.84[CEU][hapmap];0.87[CHB][hapmap]
rs9968557	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs9991381	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3512950	chr4:158938129-158938508	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
5	esv3468179	chr4:158938154-158938471	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv3512949	chr4:158938178-158938509	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158923800-158939400	Weak transcription	HepG2	liver
2	chr4:158926000-158938800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:158930200-158940800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:158930400-158940800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:158930600-158940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:158930800-158941400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:158932600-158941400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:158933000-158938600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:158933000-158938800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:158934200-158941400	Enhancers	HUVEC	blood vessel
11	chr4:158934600-158943800	Enhancers	NHDF-Ad	bronchial
12	chr4:158934800-158939200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:158935600-158939400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:158936000-158941600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:158936200-158939600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:158936200-158942600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:158936600-158938800	Weak transcription	NHLF	lung
18	chr4:158936600-158941200	Weak transcription	NHEK	skin
19	chr4:158936800-158939200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:158936800-158939400	Weak transcription	HSMMtube	muscle
21	chr4:158936800-158939600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:158936800-158940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:158936800-158941400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:158937200-158938600	Weak transcription	Ovary	ovary
25	chr4:158937200-158939600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:158937200-158947000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:158937200-158947200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:158937600-158939200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:158938000-158940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:158938000-158941400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:158938000-158941400	Weak transcription	Adipose Nuclei	Adipose
32	chr4:158938000-158941400	Weak transcription	Brain Substantia Nigra	brain
33	chr4:158938200-158939200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:158938200-158939200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:158938200-158939200	Weak transcription	HSMM	muscle
36	chr4:158938200-158939400	Weak transcription	NH-A	brain
37	chr4:158938200-158940800	Weak transcription	A549	lung
38	chr4:158938200-158940800	Weak transcription	HMEC	breast
39	chr4:158938400-158939400	Weak transcription	Osteobl	bone

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