Variant report

Variant	rs11747057
Chromosome Location	chr5:120609933-120609934
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120604790..120607005-chr5:120607199..120609992,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12188297	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73276562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73789387	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599606	chr5:120219340-120776767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3402839	chr5:120286561-120667036	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882797	chr5:120359319-120757262	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv33642	chr5:120380525-120848760	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2754268	chr5:120398198-120745053	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830468	chr5:120464697-120649067	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv882799	chr5:120565523-120649241	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1022981	chr5:120583543-120691755	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2763911	chr5:120583555-120706241	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv518883	chr5:120591425-120708748	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv599617	chr5:120608476-120670292	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120609600-120610000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:120609600-120610000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:120609600-120610000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:120609600-120610000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:120609600-120610000	Flanking Active TSS	NHDF-Ad	bronchial
6	chr5:120609600-120610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:120609600-120610200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:120609600-120610200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:120609600-120610200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:120609600-120610200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:120609600-120610200	Flanking Active TSS	A549	lung
12	chr5:120609600-120610200	Enhancers	Dnd41	blood
13	chr5:120609600-120610200	Enhancers	K562	blood
14	chr5:120609600-120610200	Enhancers	NHLF	lung
15	chr5:120609600-120610400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:120609600-120610400	Enhancers	Hela-S3	cervix
17	chr5:120609600-120610400	Enhancers	HMEC	breast
18	chr5:120609600-120610400	Enhancers	NH-A	brain
19	chr5:120609600-120610600	Enhancers	HUVEC	blood vessel
20	chr5:120609800-120610000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:120609800-120610200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:120609800-120610200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:120609800-120610200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:120609800-120610200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:120609800-120610200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:120609800-120610200	Flanking Active TSS	Osteobl	bone

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