Variant report

Variant	rs575210375
Chromosome Location	chr20:52309588-52309589
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: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	chr19:50831023..50833009-chr20:52308051..52309841,2	MCF-7	breast:
2	chr17:57912841..57917165-chr20:52306237..52309842,4	MCF-7	breast:
3	chr20:52309398..52311832-chr20:52327074..52329815,2	K562	blood:
4	chr20:52194937..52195494-chr20:52309137..52309804,2	MCF-7	breast:
5	chr20:52309522..52310475-chr20:52556126..52556882,2	MCF-7	breast:
6	chr2:11670272..11672993-chr20:52308680..52310728,2	MCF-7	breast:
7	chr20:52307812..52309721-chr3:63849166..63851714,2	MCF-7	breast:
8	chr20:52308200..52309884-chr20:55825666..55827903,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163635	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000131398	Chromatin interaction
ENSG00000131408	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000236352	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
5	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	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
8	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv517748	chr20:52304108-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv437186	chr20:52309454-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52305600-52311200	Weak transcription	Stomach Mucosa	stomach
2	chr20:52307600-52309600	Enhancers	Placenta	Placenta
3	chr20:52307800-52310000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:52308000-52309600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr20:52308000-52309600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52308000-52309800	Enhancers	Osteobl	bone
7	chr20:52308200-52309600	Enhancers	GM12878-XiMat	blood
8	chr20:52308200-52310000	Enhancers	NH-A	brain
9	chr20:52308200-52310200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:52308200-52310400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr20:52308400-52309600	Enhancers	Esophagus	oesophagus
12	chr20:52308400-52309800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr20:52308400-52310000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:52308800-52310000	Enhancers	NHDF-Ad	bronchial
15	chr20:52309000-52309600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:52309000-52309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:52309000-52309800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr20:52309000-52310000	Enhancers	NHLF	lung
19	chr20:52309000-52310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr20:52309000-52310400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:52309200-52309600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr20:52309200-52309600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:52309200-52309600	Enhancers	Primary T cells from cord blood	blood
24	chr20:52309200-52309600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr20:52309200-52309600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:52309200-52309600	Enhancers	Adipose Nuclei	Adipose
27	chr20:52309200-52309600	Enhancers	Fetal Muscle Trunk	muscle
28	chr20:52309200-52309600	Enhancers	Fetal Stomach	stomach
29	chr20:52309200-52309600	Enhancers	HSMM	muscle
30	chr20:52309200-52309800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr20:52309200-52309800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr20:52309200-52309800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr20:52309200-52309800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr20:52309200-52309800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr20:52309200-52309800	Enhancers	Dnd41	blood
36	chr20:52309200-52310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:52309200-52310000	Enhancers	HUVEC	blood vessel
38	chr20:52309200-52310200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr20:52309200-52310200	Enhancers	Duodenum Mucosa	Duodenum
40	chr20:52309200-52310200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr20:52309200-52310400	Enhancers	Primary B cells from peripheral blood	blood
42	chr20:52309200-52310400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:52309200-52310400	Enhancers	Fetal Thymus	thymus
44	chr20:52309200-52310600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr20:52309400-52309600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:52309400-52309800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr20:52309400-52309800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr20:52309400-52309800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:52309400-52309800	Enhancers	Fetal Lung	lung
50	chr20:52309400-52310000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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