Variant report

Variant	rs11940834
Chromosome Location	chr4:148459065-148459066
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10305908	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932817	1.00[YRI][hapmap]
rs11942620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943746	1.00[AMR][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	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
6	esv2274849	chr4:148458779-148459194	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148434200-148462600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:148440400-148463400	Weak transcription	NH-A	brain
4	chr4:148440600-148466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:148444400-148463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148447400-148469200	Weak transcription	Adipose Nuclei	Adipose
7	chr4:148447600-148468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148450200-148463000	Weak transcription	Fetal Stomach	stomach
9	chr4:148451600-148466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:148452000-148460600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:148453800-148463400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:148455200-148463600	Weak transcription	Fetal Kidney	kidney
13	chr4:148455400-148463200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:148455400-148463200	Weak transcription	Left Ventricle	heart
15	chr4:148455600-148460400	Weak transcription	NHDF-Ad	bronchial
16	chr4:148457000-148460200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:148457400-148464000	Strong transcription	Fetal Lung	lung
18	chr4:148457600-148463800	Weak transcription	Spleen	Spleen
19	chr4:148457800-148463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:148457800-148467600	Weak transcription	Aorta	Aorta
21	chr4:148458000-148463400	Weak transcription	Ovary	ovary
22	chr4:148458000-148465400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:148458400-148460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:148458600-148465200	Weak transcription	Fetal Heart	heart
25	chr4:148459000-148459600	Enhancers	Right Atrium	heart

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