Variant report

Variant	rs7273129
Chromosome Location	chr20:23603527-23603528
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	chr20:23603350..23604972-chr20:23610943..23612814,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16985605	0.89[ASW][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56326647	0.83[AFR][1000 genomes]
rs57526954	0.89[AFR][1000 genomes]
rs60014744	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60569976	0.89[AFR][1000 genomes]
rs6515370	0.89[LWK][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs73902110	0.83[AMR][1000 genomes]
rs8115973	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8121220	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23600600-23617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:23601800-23606000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:23601800-23606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:23602000-23603600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr20:23602000-23603600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr20:23602000-23609400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23602000-23610000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr20:23602000-23610200	Weak transcription	Lung	lung
9	chr20:23602000-23612200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:23602000-23616800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr20:23602200-23603600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr20:23602400-23606600	Weak transcription	Gastric	stomach
13	chr20:23603000-23603600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:23603000-23603600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:23603000-23606400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:23603200-23603600	Enhancers	Primary B cells from cord blood	blood
17	chr20:23603200-23603800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:23603200-23603800	Active TSS	A549	lung
19	chr20:23603200-23603800	Enhancers	HSMM	muscle
20	chr20:23603200-23604000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:23603200-23604000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:23603200-23604000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr20:23603200-23604200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr20:23603200-23604200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr20:23603200-23604800	Enhancers	Fetal Intestine Small	intestine
26	chr20:23603200-23605400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr20:23603400-23603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr20:23603400-23603600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:23603400-23603600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr20:23603400-23603600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:23603400-23603600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:23603400-23603600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr20:23603400-23603600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:23603400-23603600	Enhancers	Liver	Liver
35	chr20:23603400-23603600	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr20:23603400-23603600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr20:23603400-23603600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr20:23603400-23603600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr20:23603400-23603600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr20:23603400-23603600	Enhancers	GM12878-XiMat	blood
41	chr20:23603400-23603600	Flanking Active TSS	HepG2	liver
42	chr20:23603400-23603600	Flanking Active TSS	HSMMtube	muscle
43	chr20:23603400-23603600	Flanking Active TSS	NH-A	brain
44	chr20:23603400-23603800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr20:23603400-23603800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr20:23603400-23603800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:23603400-23603800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr20:23603400-23603800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr20:23603400-23603800	Active TSS	Aorta	Aorta
50	chr20:23603400-23603800	Enhancers	Brain Inferior Temporal Lobe	brain

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