Variant report

Variant	rs5340
Chromosome Location	chr4:148464564-148464565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148462853..148465577-chr4:148466206..148468750,2	K562	blood:
2	chr4:148462595..148465278-chr4:148466302..148468133,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10010511	1.00[AMR][1000 genomes]
rs10015122	1.00[AMR][1000 genomes]
rs10305898	1.00[YRI][hapmap]
rs10305935	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305938	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023637	1.00[AMR][1000 genomes]
rs17023724	1.00[AMR][1000 genomes]
rs17023733	1.00[AMR][1000 genomes]
rs17023744	1.00[AMR][1000 genomes]
rs17023757	1.00[AMR][1000 genomes]
rs17023761	1.00[AMR][1000 genomes]
rs17023763	1.00[AMR][1000 genomes]
rs17023771	1.00[AMR][1000 genomes]
rs28412528	1.00[AMR][1000 genomes]
rs28416759	1.00[AMR][1000 genomes]
rs28437023	1.00[AMR][1000 genomes]
rs28476507	1.00[AMR][1000 genomes]
rs28536542	1.00[AMR][1000 genomes]
rs28559891	1.00[AMR][1000 genomes]
rs28582558	1.00[AMR][1000 genomes]
rs28706741	1.00[AMR][1000 genomes]
rs5339	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9991057	1.00[AMR][1000 genomes]
rs9992593	1.00[AMR][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	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	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
4	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148440600-148466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:148447400-148469200	Weak transcription	Adipose Nuclei	Adipose
4	chr4:148447600-148468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:148451600-148466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:148457800-148467600	Weak transcription	Aorta	Aorta
7	chr4:148458000-148465400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:148458600-148465200	Weak transcription	Fetal Heart	heart
9	chr4:148461600-148472000	Weak transcription	Lung	lung
10	chr4:148461800-148465000	Weak transcription	Fetal Intestine Small	intestine
11	chr4:148462600-148467200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:148463400-148465200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:148463400-148470000	Enhancers	Hela-S3	cervix
14	chr4:148463600-148465400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:148463600-148468400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:148463800-148464800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:148463800-148465000	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:148463800-148466600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:148463800-148469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:148463800-148474000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:148464000-148465400	Weak transcription	Ovary	ovary
22	chr4:148464000-148466200	Weak transcription	Fetal Lung	lung
23	chr4:148464000-148466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:148464000-148470600	Weak transcription	Fetal Stomach	stomach
25	chr4:148464000-148471600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:148464000-148471800	Weak transcription	Left Ventricle	heart
27	chr4:148464200-148465000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:148464200-148466400	Weak transcription	HMEC	breast
29	chr4:148464200-148466800	Weak transcription	NH-A	brain
30	chr4:148464400-148466800	Weak transcription	NHDF-Ad	bronchial
31	chr4:148464400-148466800	Weak transcription	Osteobl	bone
32	chr4:148464400-148467000	Weak transcription	NHLF	lung
33	chr4:148464400-148468000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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