Variant report

Variant	rs4813721
Chromosome Location	chr20:4797568-4797569
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	chr20:4794840..4796651-chr20:4796825..4799356,2	K562	blood:

Variant related genes	Relation type
ENSG00000101265	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13045004	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885308	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281642	0.86[ASN][1000 genomes]
rs2326550	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7271897	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3373329	chr20:4082756-5007606	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530448	chr20:4575637-5030917	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv912628	chr20:4751487-4836440	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv912629	chr20:4751487-5183353	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:4779200-4802800	Weak transcription	Aorta	Aorta
2	chr20:4782000-4801600	Weak transcription	Fetal Intestine Small	intestine
3	chr20:4783400-4800400	Weak transcription	Fetal Brain Male	brain
4	chr20:4789000-4801200	Weak transcription	Ovary	ovary
5	chr20:4790400-4801400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:4791200-4799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:4793000-4798200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:4794800-4801600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:4794800-4803000	Weak transcription	Small Intestine	intestine
10	chr20:4795200-4801400	Weak transcription	Fetal Lung	lung
11	chr20:4795200-4801600	Weak transcription	Stomach Mucosa	stomach
12	chr20:4795400-4802400	Weak transcription	Dnd41	blood
13	chr20:4795400-4802600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:4795400-4802600	Weak transcription	Right Atrium	heart
15	chr20:4795600-4800200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr20:4795600-4801400	Weak transcription	Fetal Brain Female	brain
17	chr20:4795600-4801600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr20:4795600-4802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr20:4795800-4802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr20:4796000-4800400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:4796000-4802200	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:4796000-4802200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr20:4796200-4798200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr20:4796200-4798200	Weak transcription	Placenta	Placenta
25	chr20:4796200-4799200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr20:4796200-4801400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr20:4796200-4801600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr20:4796200-4801600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr20:4796400-4798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr20:4796400-4798400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr20:4796400-4800000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr20:4796400-4800600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr20:4796400-4801200	Weak transcription	HUVEC	blood vessel
34	chr20:4796400-4801600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr20:4796400-4802400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr20:4796400-4803000	Weak transcription	Pancreas	Pancrea
37	chr20:4796600-4797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr20:4796600-4798000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr20:4796600-4798200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr20:4796600-4798800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr20:4796600-4798800	Weak transcription	Spleen	Spleen
42	chr20:4796600-4799000	Weak transcription	Brain Substantia Nigra	brain
43	chr20:4796600-4799000	Weak transcription	Thymus	Thymus
44	chr20:4796600-4799400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr20:4796600-4799800	Weak transcription	Fetal Thymus	thymus
46	chr20:4796600-4800000	Weak transcription	Brain Angular Gyrus	brain
47	chr20:4796600-4800000	Genic enhancers	Monocytes-CD14+_RO01746	blood
48	chr20:4796600-4800400	Weak transcription	Brain Hippocampus Middle	brain
49	chr20:4796600-4800400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr20:4796600-4800600	Weak transcription	Brain Anterior Caudate	brain

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