Variant report

Variant	rs73136250
Chromosome Location	chr20:52351374-52351375
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:58602011..58604653-chr20:52349971..52352360,2	MCF-7	breast:
2	chr20:52349507..52351793-chr6:132662386..132665362,2	MCF-7	breast:
3	chr20:52350802..52352728-chr6:151906022..151908666,2	MCF-7	breast:
4	chr20:52350699..52352639-chr20:52486021..52487199,7	MCF-7	breast:
5	chr17:59475494..59478044-chr20:52349419..52353533,3	MCF-7	breast:
6	chr20:52351217..52353238-chr20:55840905..55843708,3	MCF-7	breast:
7	chr17:56707645..56710318-chr20:52350579..52352999,2	MCF-7	breast:
8	chr17:57917955..57920609-chr20:52350606..52353130,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267280	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16998351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73134297	1.00[AFR][1000 genomes];0.90[AMR][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	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52331200-52352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52341800-52354800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:52342000-52352200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr20:52346400-52351600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr20:52346400-52352800	Weak transcription	Spleen	Spleen
6	chr20:52346800-52352000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:52347200-52352000	Weak transcription	Fetal Thymus	thymus
8	chr20:52347200-52352200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:52347200-52352400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr20:52347200-52352800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr20:52347200-52353400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr20:52347600-52352000	Weak transcription	Primary B cells from cord blood	blood
13	chr20:52347600-52352000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr20:52348600-52357600	Enhancers	Placenta	Placenta
15	chr20:52349800-52351600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr20:52349800-52351800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:52350000-52352200	Weak transcription	NHLF	lung
18	chr20:52350000-52352600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr20:52350200-52353200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr20:52350400-52351400	Enhancers	NHDF-Ad	bronchial
21	chr20:52350400-52352400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:52350400-52353400	Enhancers	HepG2	liver
23	chr20:52350400-52353600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr20:52350400-52354800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr20:52350600-52351400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:52350600-52351400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:52350600-52351400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr20:52350600-52352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:52350600-52352400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr20:52350600-52352800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:52350600-52353200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:52350600-52353200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:52350600-52353400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr20:52350600-52357600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr20:52350800-52351400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr20:52350800-52351400	Enhancers	GM12878-XiMat	blood
37	chr20:52350800-52352000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr20:52350800-52352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr20:52350800-52352200	Enhancers	A549	lung
40	chr20:52350800-52352400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:52350800-52352400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr20:52350800-52352400	Enhancers	Fetal Heart	heart
43	chr20:52350800-52352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr20:52350800-52352800	Weak transcription	Fetal Stomach	stomach
45	chr20:52351000-52352000	Weak transcription	NH-A	brain
46	chr20:52351000-52352000	Weak transcription	Osteobl	bone
47	chr20:52351000-52352200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr20:52351000-52352200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:52351000-52352200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:52351000-52352200	Weak transcription	Fetal Muscle Leg	muscle

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