Variant report

Variant	rs1813326
Chromosome Location	chr4:124594006-124594007
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	chr4:124591127..124594016-chr4:124622193..124624753,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10776504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1425412	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2113980	1.00[AMR][1000 genomes]
rs2589839	1.00[AMR][1000 genomes]
rs2589846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6534421	1.00[AMR][1000 genomes]
rs6534423	1.00[AMR][1000 genomes]
rs6850213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7656185	1.00[EUR][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879874	chr4:124550693-124607201	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:124573000-124598200	Weak transcription	Right Atrium	heart
2	chr4:124573800-124595200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:124578200-124596600	Weak transcription	Aorta	Aorta
4	chr4:124580800-124605000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:124584400-124596000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:124585400-124597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:124588200-124594600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:124589600-124594400	Weak transcription	NHLF	lung
9	chr4:124592400-124595800	Enhancers	Fetal Intestine Large	intestine
10	chr4:124592800-124594400	Enhancers	GM12878-XiMat	blood
11	chr4:124593000-124594600	Weak transcription	Psoas Muscle	Psoas
12	chr4:124593000-124597200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:124593200-124595400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:124593400-124594400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:124593400-124594400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:124593400-124594600	Weak transcription	Small Intestine	intestine
17	chr4:124593400-124604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:124593600-124597000	Enhancers	Fetal Lung	lung
19	chr4:124593800-124596000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:124594000-124594600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr4:124594000-124594800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:124594000-124595000	Enhancers	NHDF-Ad	bronchial
23	chr4:124594000-124595400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:124594000-124595400	Enhancers	NHEK	skin
25	chr4:124594000-124596000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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