Variant report

Variant	rs4140547
Chromosome Location	chr20:24615790-24615791
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	chr20:24611712..24613428-chr20:24614096..24616788,2	K562	blood:
2	chr20:24610034..24611986-chr20:24615289..24617855,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11087472	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs11087473	0.80[EUR][1000 genomes]
rs11696125	0.80[EUR][1000 genomes]
rs11697115	0.84[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11697994	0.83[EUR][1000 genomes]
rs11699136	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs11699265	0.82[EUR][1000 genomes]
rs11699457	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11700002	0.82[EUR][1000 genomes]
rs13041960	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs13044561	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs17879983	0.80[EUR][1000 genomes]
rs34118798	0.84[EUR][1000 genomes]
rs34414983	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35378778	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35435987	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35952359	0.82[EUR][1000 genomes]
rs55644719	0.82[EUR][1000 genomes]
rs8126133	0.84[EUR][1000 genomes]
rs8126153	0.84[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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv912824	chr20:24612808-24639916	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24608800-24616800	Enhancers	Brain Hippocampus Middle	brain
2	chr20:24613400-24616200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr20:24613400-24616200	Enhancers	HMEC	breast
4	chr20:24613400-24616200	Enhancers	NH-A	brain
5	chr20:24613400-24616600	Enhancers	Brain Substantia Nigra	brain
6	chr20:24613400-24618000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:24613600-24615800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:24613600-24616200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:24613800-24616000	Enhancers	Brain Anterior Caudate	brain
10	chr20:24613800-24616000	Enhancers	NHDF-Ad	bronchial
11	chr20:24613800-24616200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr20:24613800-24616200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr20:24613800-24618000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr20:24614000-24616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:24614000-24619400	Weak transcription	Gastric	stomach
16	chr20:24614200-24619200	Weak transcription	Aorta	Aorta
17	chr20:24614400-24616000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:24614400-24616200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:24614400-24616600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr20:24614600-24619800	Weak transcription	Esophagus	oesophagus
21	chr20:24614800-24616200	Enhancers	Brain Cingulate Gyrus	brain
22	chr20:24614800-24616400	Enhancers	Brain Angular Gyrus	brain
23	chr20:24614800-24616600	Enhancers	HSMM	muscle
24	chr20:24614800-24617000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr20:24614800-24617800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr20:24614800-24617800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr20:24615000-24616000	Enhancers	Osteobl	bone
28	chr20:24615000-24616200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr20:24615000-24616200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr20:24615000-24616200	Flanking Active TSS	A549	lung
31	chr20:24615000-24616800	Enhancers	HSMMtube	muscle
32	chr20:24615000-24617800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr20:24615200-24615800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:24615200-24615800	Enhancers	Primary hematopoietic stem cells	blood
35	chr20:24615200-24615800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr20:24615200-24617000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr20:24615200-24617400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr20:24615200-24617800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr20:24615200-24620200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr20:24615400-24615800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr20:24615400-24615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr20:24615400-24615800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr20:24615400-24615800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:24615400-24616000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:24615400-24616000	Bivalent Enhancer	HepG2	liver
46	chr20:24615400-24616200	Enhancers	Fetal Thymus	thymus
47	chr20:24615400-24616200	Enhancers	NHLF	lung
48	chr20:24615400-24617000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr20:24615400-24617400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr20:24615400-24633800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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