Variant report

Variant	rs17073796
Chromosome Location	chr13:30277351-30277352
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30276744..30278789-chr13:30280944..30283697,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12871145	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12876062	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17073799	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1831095	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34102821	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34177704	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34622544	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34953541	0.86[AMR][1000 genomes]
rs35331003	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35933222	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56044395	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66982000	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67704126	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73157103	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73157108	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7324224	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7992067	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7996713	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9579456	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9579458	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9579460	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30271800-30277400	Weak transcription	Esophagus	oesophagus
2	chr13:30276200-30279000	Enhancers	NHEK	skin
3	chr13:30276600-30277400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:30276600-30277600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:30276600-30277600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:30276600-30277600	Flanking Active TSS	NHDF-Ad	bronchial
7	chr13:30276600-30277800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:30276600-30278200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:30276600-30279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:30276800-30277400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:30276800-30277400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr13:30276800-30277400	Flanking Active TSS	HUVEC	blood vessel
13	chr13:30276800-30277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:30276800-30277600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:30276800-30277600	Enhancers	HSMM	muscle
16	chr13:30276800-30277600	Flanking Active TSS	NH-A	brain
17	chr13:30276800-30277800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:30276800-30277800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:30276800-30279600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:30277000-30277400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr13:30277000-30277400	Enhancers	Right Ventricle	heart
22	chr13:30277000-30277400	Active TSS	Hela-S3	cervix
23	chr13:30277000-30277600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr13:30277000-30277600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:30277000-30277600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:30277000-30277600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:30277000-30277600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:30277000-30277600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr13:30277000-30277600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr13:30277000-30277600	Bivalent Enhancer	Placenta	Placenta
31	chr13:30277000-30277600	Enhancers	Left Ventricle	heart
32	chr13:30277000-30277600	Enhancers	Stomach Smooth Muscle	stomach
33	chr13:30277000-30277800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr13:30277000-30277800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:30277000-30277800	Enhancers	NHLF	lung
36	chr13:30277000-30278400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:30277000-30279200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:30277000-30279600	Enhancers	Spleen	Spleen
39	chr13:30277200-30277400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr13:30277200-30277600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:30277200-30277600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr13:30277200-30277600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:30277200-30277800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr13:30277200-30277800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:30277200-30277800	Enhancers	Osteobl	bone
46	chr13:30277200-30278800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:30277200-30278800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:30277200-30279200	Enhancers	Fetal Muscle Trunk	muscle

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