Variant report

Variant	rs17007480
Chromosome Location	chr4:142569983-142569984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17007489	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs17007506	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17007530	1.00[YRI][hapmap]
rs17007535	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17007539	1.00[YRI][hapmap]
rs17007541	1.00[YRI][hapmap]
rs60699545	0.86[AFR][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	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142559800-142574000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:142560000-142575200	Weak transcription	Right Atrium	heart
3	chr4:142564000-142575200	Weak transcription	Psoas Muscle	Psoas
4	chr4:142564600-142570200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:142565400-142580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:142566200-142573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:142567600-142570000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:142567600-142570200	Enhancers	Colon Smooth Muscle	Colon
9	chr4:142567800-142573200	Weak transcription	NH-A	brain
10	chr4:142567800-142586400	Weak transcription	HSMM	muscle
11	chr4:142568600-142570000	Enhancers	GM12878-XiMat	blood
12	chr4:142568600-142570400	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:142568600-142573000	Weak transcription	Fetal Heart	heart
14	chr4:142568600-142573400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:142568800-142570200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:142568800-142581000	Weak transcription	A549	lung
17	chr4:142569000-142570000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:142569000-142570200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr4:142569200-142570000	Weak transcription	Adipose Nuclei	Adipose
20	chr4:142569200-142570000	Weak transcription	Liver	Liver
21	chr4:142569200-142570000	Weak transcription	Spleen	Spleen
22	chr4:142569200-142573400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:142569200-142573400	Weak transcription	Osteobl	bone
24	chr4:142569200-142575200	Weak transcription	Aorta	Aorta
25	chr4:142569200-142577000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:142569200-142582800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:142569400-142573200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:142569400-142573400	Weak transcription	Small Intestine	intestine
29	chr4:142569400-142573800	Weak transcription	NHLF	lung
30	chr4:142569600-142570000	Weak transcription	NHDF-Ad	bronchial

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