Variant report

Variant	rs73914419
Chromosome Location	chr20:52513415-52513416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:45988401..45991053-chr20:52513273..52515064,2	MCF-7	breast:
2	chr20:52512898..52515606-chr6:26157808..26159796,2	MCF-7	breast:
3	chr20:52508062..52510082-chr20:52513024..52514918,2	K562	blood:
4	chr20:45810780..45813454-chr20:52512077..52514430,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 19 )
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]
rs73914417	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:5 , 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

No data

Chromatin state (count:75 , 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	chr20:52507800-52518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:52507800-52522800	Weak transcription	Placenta	Placenta
4	chr20:52508600-52514000	Weak transcription	HUVEC	blood vessel
5	chr20:52508600-52514400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:52509800-52514600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr20:52509800-52514600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr20:52509800-52514600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:52509800-52514600	Weak transcription	Fetal Lung	lung
10	chr20:52509800-52514800	Weak transcription	NHLF	lung
11	chr20:52509800-52515000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:52509800-52515000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr20:52509800-52515200	Weak transcription	Gastric	stomach
14	chr20:52509800-52515200	Weak transcription	Pancreas	Pancrea
15	chr20:52509800-52515800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr20:52509800-52515800	Weak transcription	Spleen	Spleen
17	chr20:52510000-52514400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr20:52510000-52514400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr20:52510000-52514600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr20:52510000-52514600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:52510000-52514600	Weak transcription	Stomach Mucosa	stomach
22	chr20:52510000-52514800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr20:52510000-52514800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr20:52510000-52514800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:52510000-52515200	Weak transcription	Adipose Nuclei	Adipose
26	chr20:52510000-52515600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr20:52510000-52515600	Weak transcription	Fetal Kidney	kidney
28	chr20:52510200-52514400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr20:52510200-52514400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr20:52510200-52514400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr20:52510200-52514600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:52510200-52514600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr20:52510200-52514600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:52510200-52514600	Weak transcription	Thymus	Thymus
35	chr20:52510200-52514600	Weak transcription	NHEK	skin
36	chr20:52510200-52514800	Weak transcription	Dnd41	blood
37	chr20:52510200-52515200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr20:52510200-52515200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr20:52510200-52515400	Weak transcription	Primary T cells from cord blood	blood
40	chr20:52510200-52515400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr20:52510200-52515400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr20:52510200-52515600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr20:52510200-52515600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr20:52510200-52515800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr20:52510400-52514400	Weak transcription	HMEC	breast
46	chr20:52510400-52515400	Weak transcription	A549	lung
47	chr20:52510400-52515600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:52510400-52515600	Weak transcription	NH-A	brain
49	chr20:52510400-52515800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:52510400-52515800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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