Variant report

Variant	rs73912496
Chromosome Location	chr20:52444617-52444618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52367432..52369907-chr20:52444310..52447312,3	K562	blood:
2	chr17:79479762..79482602-chr20:52444194..52446135,2	MCF-7	breast:
3	chr17:57917983..57919742-chr20:52443624..52445975,2	MCF-7	breast:
4	chr19:12904144..12906645-chr20:52443752..52446655,2	MCF-7	breast:
5	chr20:52194902..52196178-chr20:52444038..52445704,6	MCF-7	breast:
6	chr1:116005229..116007431-chr20:52444362..52446929,2	MCF-7	breast:
7	chr20:52442966..52445864-chr20:55839139..55841212,2	MCF-7	breast:
8	chr17:57917840..57922874-chr20:52444092..52449259,5	MCF-7	breast:
9	chr20:52444427..52449219-chr20:55839929..55843430,6	MCF-7	breast:
10	chr17:56708142..56710971-chr20:52444323..52447306,3	MCF-7	breast:
11	chr17:65374754..65375398-chr20:52444383..52445136,2	MCF-7	breast:
12	chr1:112486408..112487122-chr20:52444338..52445114,2	MCF-7	breast:
13	chr17:56735072..56736721-chr20:52444117..52446150,2	MCF-7	breast:
14	chr17:58602315..58604454-chr20:52443406..52445937,2	MCF-7	breast:
15	chr15:69817146..69817999-chr20:52444013..52444987,2	MCF-7	breast:
16	chr20:52369629..52371487-chr20:52444483..52447130,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229947	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000154217	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000229848	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000184009	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000202077	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11905615	0.83[AFR][1000 genomes]
rs16998468	0.86[AFR][1000 genomes]
rs6022788	0.81[AFR][1000 genomes]
rs73912406	0.81[AFR][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	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52440000-52444800	Weak transcription	Thymus	Thymus
3	chr20:52440800-52445400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:52441000-52445000	Enhancers	Fetal Stomach	stomach
5	chr20:52441200-52446000	Enhancers	HepG2	liver
6	chr20:52441600-52445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:52442400-52444800	Weak transcription	Stomach Mucosa	stomach
8	chr20:52442400-52445000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr20:52442600-52445400	Enhancers	Primary B cells from peripheral blood	blood
10	chr20:52442800-52445400	Enhancers	Fetal Thymus	thymus
11	chr20:52443000-52445200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr20:52443200-52445400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr20:52443200-52445400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr20:52443200-52445400	Enhancers	Fetal Intestine Small	intestine
15	chr20:52443200-52445600	Flanking Active TSS	A549	lung
16	chr20:52443400-52445400	Enhancers	Primary T cells from cord blood	blood
17	chr20:52443400-52445400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr20:52443400-52445800	Enhancers	Fetal Intestine Large	intestine
19	chr20:52443400-52456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:52443600-52444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:52443600-52444800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:52443600-52445000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:52443600-52445000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr20:52443600-52445000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr20:52443600-52445000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr20:52443600-52445000	Enhancers	Rectal Smooth Muscle	rectum
27	chr20:52443600-52445200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr20:52443600-52445200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr20:52443600-52445200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr20:52443600-52445200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr20:52443600-52445600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:52443600-52447000	Enhancers	Placenta	Placenta
33	chr20:52443600-52447200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr20:52443800-52444800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:52443800-52444800	Enhancers	NH-A	brain
36	chr20:52443800-52445000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr20:52443800-52445000	Enhancers	Adipose Nuclei	Adipose
38	chr20:52443800-52445200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr20:52443800-52445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr20:52443800-52445200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr20:52443800-52445200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr20:52443800-52445200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr20:52443800-52445400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:52443800-52445400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr20:52443800-52445400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr20:52443800-52445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr20:52443800-52445400	Enhancers	Dnd41	blood
48	chr20:52443800-52445600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr20:52443800-52446800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr20:52443800-52449000	Weak transcription	Lung	lung

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