Variant report

Variant	rs72550821
Chromosome Location	chr4:55524338-55524339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55524169..55525857-chr4:55532977..55534887,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17084614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084661	1.00[AMR][1000 genomes]
rs17084684	0.85[AMR][1000 genomes]
rs55643815	1.00[AMR][1000 genomes]
rs55703521	1.00[AMR][1000 genomes]
rs56037117	1.00[AMR][1000 genomes]
rs58709258	0.87[AMR][1000 genomes]
rs6814083	1.00[AMR][1000 genomes]
rs6835928	1.00[AMR][1000 genomes]
rs73134083	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135814	1.00[AMR][1000 genomes]
rs73818384	0.87[AMR][1000 genomes]
rs73818386	1.00[AMR][1000 genomes]
rs73818390	0.85[AMR][1000 genomes]
rs7697550	1.00[AMR][1000 genomes]
rs9683978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1010702	chr4:55440944-55528450	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55523000-55524600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr4:55523000-55525600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:55523000-55525800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr4:55523000-55526200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:55523000-55528600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:55523200-55524600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:55523200-55524600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:55523200-55524600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr4:55523200-55525400	Active TSS	Brain Substantia Nigra	brain
10	chr4:55523200-55525800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:55523200-55526400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:55523400-55524400	Active TSS	Primary T cells from cord blood	blood
13	chr4:55523400-55524600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr4:55523400-55524600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr4:55523400-55524600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr4:55523400-55524600	Flanking Active TSS	Pancreas	Pancrea
17	chr4:55523400-55524600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
18	chr4:55523400-55524600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr4:55523400-55524600	Bivalent/Poised TSS	NHLF	lung
20	chr4:55523400-55524800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr4:55523400-55524800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr4:55523400-55524800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr4:55523400-55525000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:55523400-55525400	Active TSS	Brain Angular Gyrus	brain
25	chr4:55523400-55525400	Active TSS	Brain Anterior Caudate	brain
26	chr4:55523400-55525400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:55523400-55525400	Active TSS	Gastric	stomach
28	chr4:55523400-55525600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:55523400-55525600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr4:55523400-55525800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:55523400-55525800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:55523400-55525800	Active TSS	Aorta	Aorta
33	chr4:55523400-55525800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr4:55523400-55525800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr4:55523400-55526000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr4:55523400-55526000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:55523400-55526200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:55523400-55526400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr4:55523600-55524400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr4:55523600-55524600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:55523600-55524600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:55523600-55524600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:55523600-55524600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:55523600-55524600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:55523600-55524600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:55523600-55524600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr4:55523600-55524600	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr4:55523600-55524800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:55523600-55525000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:55523600-55525200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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