Variant report

Variant	rs6537489
Chromosome Location	chr4:148434146-148434147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10011966	0.80[CHB][hapmap]
rs10024834	0.81[CHB][hapmap]
rs10305895	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17474816	0.81[CHB][hapmap]
rs1878404	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537483	0.81[CHB][hapmap]
rs6537487	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812093	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6819740	0.81[CHB][hapmap]
rs6821368	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6822565	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6840756	0.81[CHB][hapmap]
rs6848108	0.81[CHB][hapmap]
rs7655670	0.81[CHB][hapmap]
rs7674137	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
2	chr4:148420000-148436000	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:148420000-148438800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:148422200-148443000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:148428600-148434200	Weak transcription	Fetal Lung	lung
6	chr4:148430600-148439400	Weak transcription	Aorta	Aorta
7	chr4:148430800-148434200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:148432000-148435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:148432200-148438000	Enhancers	Fetal Heart	heart
10	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:148432600-148434600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:148432800-148438800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:148433000-148438800	Weak transcription	Osteobl	bone
14	chr4:148433000-148439200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:148433200-148434200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:148433600-148434400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:148433800-148434800	Enhancers	NH-A	brain
18	chr4:148433800-148435400	Enhancers	NHDF-Ad	bronchial
19	chr4:148434000-148434200	Enhancers	Stomach Smooth Muscle	stomach
20	chr4:148434000-148434400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:148434000-148434400	Enhancers	Left Ventricle	heart
22	chr4:148434000-148434400	Enhancers	Ovary	ovary
23	chr4:148434000-148434400	Enhancers	Right Atrium	heart
24	chr4:148434000-148434400	Enhancers	Right Ventricle	heart
25	chr4:148434000-148435200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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