Variant report

Variant	rs562439811
Chromosome Location	chr20:52453458-52453459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56707356..56710177-chr20:52450614..52453612,3	MCF-7	breast:
2	chr17:59939333..59940887-chr20:52450988..52453979,2	MCF-7	breast:
3	chr20:52445630..52448175-chr20:52453269..52455432,3	K562	blood:

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	esv3454649	chr20:52452857-52453526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3454650	chr20:52452857-52453526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52443400-52456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:52444800-52456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:52446600-52455400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr20:52447000-52456000	Weak transcription	Placenta	Placenta
6	chr20:52447400-52453600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:52447400-52456200	Weak transcription	HUVEC	blood vessel
8	chr20:52447400-52459400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr20:52449200-52456000	Weak transcription	Lung	lung
10	chr20:52449200-52456200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:52449600-52457800	Enhancers	Primary B cells from cord blood	blood
12	chr20:52449800-52461000	Enhancers	Primary B cells from peripheral blood	blood
13	chr20:52450000-52453800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr20:52450000-52462000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr20:52450200-52454000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr20:52450400-52457800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr20:52450400-52465200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr20:52450600-52465200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr20:52450800-52453600	Weak transcription	HepG2	liver
20	chr20:52450800-52456000	Weak transcription	Fetal Muscle Leg	muscle
21	chr20:52451000-52453600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr20:52451000-52453600	Weak transcription	A549	lung
23	chr20:52451000-52456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr20:52451000-52456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:52451000-52456200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:52451000-52457000	Weak transcription	NHDF-Ad	bronchial
27	chr20:52451000-52462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:52451200-52454000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr20:52451200-52457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:52451200-52457200	Weak transcription	NHEK	skin
31	chr20:52451200-52464000	Weak transcription	HSMM	muscle
32	chr20:52452200-52454400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr20:52452200-52456800	Enhancers	Fetal Intestine Large	intestine
34	chr20:52452400-52453800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr20:52452400-52454000	Enhancers	Duodenum Mucosa	Duodenum
36	chr20:52452400-52454800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr20:52452400-52455000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:52452400-52455000	Weak transcription	Dnd41	blood
39	chr20:52452400-52455000	Weak transcription	GM12878-XiMat	blood
40	chr20:52452400-52455200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr20:52452400-52455200	Weak transcription	Thymus	Thymus
42	chr20:52452400-52456000	Weak transcription	Spleen	Spleen
43	chr20:52452400-52463800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr20:52452400-52465200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr20:52452600-52453600	Weak transcription	Primary T cells from cord blood	blood
46	chr20:52452600-52453600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr20:52452600-52453800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:52452600-52454800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr20:52452600-52455000	Weak transcription	Fetal Thymus	thymus
50	chr20:52452600-52455000	Weak transcription	Monocytes-CD14+_RO01746	blood

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