Variant report

Variant	rs73914417
Chromosome Location	chr20:52509898-52509899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52508062..52510082-chr20:52513024..52514918,2	K562	blood:
2	chr20:52508084..52511476-chr20:55839330..55841787,4	MCF-7	breast:
3	chr20:52508732..52511577-chr20:55764444..55767184,2	MCF-7	breast:
4	chr20:52507216..52510163-chr20:55822269..55824456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16998499	1.00[EUR][1000 genomes]
rs16998502	1.00[EUR][1000 genomes]
rs16998533	1.00[EUR][1000 genomes]
rs57886257	1.00[EUR][1000 genomes]
rs58979406	1.00[EUR][1000 genomes]
rs59046998	1.00[EUR][1000 genomes]
rs7262342	1.00[EUR][1000 genomes]
rs73275816	1.00[EUR][1000 genomes]
rs73275820	1.00[EUR][1000 genomes]
rs73914419	1.00[EUR][1000 genomes]
rs73914429	1.00[EUR][1000 genomes]
rs73914430	1.00[EUR][1000 genomes]
rs73914434	1.00[EUR][1000 genomes]
rs8114189	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	esv1831516	chr20:52437245-52514913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
5	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
6	esv3440296	chr20:52508170-52510718	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 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	chr20:52500600-52515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:52507200-52510400	Enhancers	NH-A	brain
3	chr20:52507400-52510200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr20:52507800-52518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:52507800-52522800	Weak transcription	Placenta	Placenta
6	chr20:52508000-52512400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:52508400-52510200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr20:52508400-52510200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr20:52508400-52512000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr20:52508400-52512400	Enhancers	Primary B cells from peripheral blood	blood
11	chr20:52508600-52510200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr20:52508600-52510200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr20:52508600-52511800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:52508600-52514000	Weak transcription	HUVEC	blood vessel
15	chr20:52508600-52514400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:52508800-52510200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr20:52508800-52510200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:52508800-52510400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:52508800-52512000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr20:52509200-52510000	Enhancers	HSMMtube	muscle
21	chr20:52509400-52510000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr20:52509400-52510000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr20:52509400-52510000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr20:52509400-52510000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr20:52509400-52510000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:52509400-52510000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr20:52509400-52510000	Enhancers	Duodenum Mucosa	Duodenum
28	chr20:52509400-52510000	Enhancers	Esophagus	oesophagus
29	chr20:52509400-52510000	Enhancers	Fetal Kidney	kidney
30	chr20:52509400-52510000	Flanking Active TSS	Osteobl	bone
31	chr20:52509400-52510200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr20:52509400-52510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:52509400-52510200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr20:52509400-52510200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr20:52509400-52510200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:52509400-52510200	Enhancers	Primary T cells from cord blood	blood
37	chr20:52509400-52510200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr20:52509400-52510200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:52509400-52510200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:52509400-52510200	Enhancers	Thymus	Thymus
41	chr20:52509400-52510200	Flanking Active TSS	A549	lung
42	chr20:52509400-52510200	Enhancers	Dnd41	blood
43	chr20:52509400-52510200	Bivalent Enhancer	HepG2	liver
44	chr20:52509400-52510400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr20:52509400-52510400	Enhancers	HMEC	breast
46	chr20:52509400-52510600	Enhancers	Primary hematopoietic stem cells	blood
47	chr20:52509400-52510600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:52509400-52510600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr20:52509400-52510600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr20:52509400-52510600	Enhancers	Fetal Thymus	thymus

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