Variant report

Variant	rs543262207
Chromosome Location	chr20:52560866-52560867
allele	-/TT
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52559353..52561066-chr20:52815864..52817031,20	MCF-7	breast:
2	chr17:62398103..62399042-chr20:52560051..52560948,3	MCF-7	breast:
3	chr20:52560794..52562724-chr20:52567019..52569815,2	K562	blood:
4	chr20:52368008..52370445-chr20:52559869..52562207,2	K562	blood:
5	chr17:59474996..59480161-chr20:52556121..52561884,6	MCF-7	breast:
6	chr20:52560304..52562724-chr20:52567019..52568776,2	K562	blood:
7	chr17:62398176..62399003-chr20:52560040..52560894,2	MCF-7	breast:
8	chr20:52551745..52571491-chr20:55837843..55848700,39	MCF-7	breast:
9	chr20:52560480..52562741-chr20:55768804..55771635,2	MCF-7	breast:
10	chr17:59938922..59941556-chr20:52559570..52562678,4	MCF-7	breast:
11	chr20:52559962..52561071-chr20:55755658..55756633,7	MCF-7	breast:
12	chr20:52559752..52562075-chr20:52740413..52742422,2	MCF-7	breast:
13	chr20:52557746..52563146-chr20:52657006..52659772,4	MCF-7	breast:
14	chr20:52531990..52532987-chr20:52560322..52560880,3	MCF-7	breast:
15	chr20:52560024..52560977-chr20:52673636..52674212,3	MCF-7	breast:
16	chr20:52559543..52560922-chr20:52815975..52816881,12	MCF-7	breast:
17	chr20:52195014..52196203-chr20:52559962..52560949,9	MCF-7	breast:
18	chr17:65105910..65108534-chr20:52559281..52562207,2	MCF-7	breast:
19	chr20:52560140..52560953-chr20:55840787..55841663,3	MCF-7	breast:
20	chr20:52559928..52560938-chr20:55798386..55799365,4	MCF-7	breast:
21	chr20:52558981..52564129-chr20:55836783..55844481,11	MCF-7	breast:
22	chr17:59493945..59494456-chr20:52560394..52560907,2	MCF-7	breast:
23	chr20:52559798..52560894-chr20:52814273..52815363,3	MCF-7	breast:
24	chr20:52559629..52560938-chr20:52573970..52574859,6	MCF-7	breast:
25	chr20:52559216..52560998-chr20:52678738..52679912,14	MCF-7	breast:
26	chr20:52559894..52560944-chr20:55819143..55820346,5	MCF-7	breast:
27	chr19:36979934..36982567-chr20:52560633..52562262,2	MCF-7	breast:
28	chr20:52559378..52561018-chr20:52678965..52680200,31	MCF-7	breast:
29	chr20:52560027..52561332-chr20:52573988..52574832,5	MCF-7	breast:
30	chr20:52531996..52533073-chr20:52559900..52560972,7	MCF-7	breast:
31	chr20:52560199..52561160-chr20:52568299..52569413,3	MCF-7	breast:
32	chr20:46426563..46428367-chr20:52559861..52561851,2	MCF-7	breast:
33	chr20:52195051..52196095-chr20:52559555..52561243,28	MCF-7	breast:
34	chr20:52560012..52562267-chr20:55711106..55712686,2	MCF-7	breast:
35	chr20:52559436..52563204-chr20:52814345..52818014,8	MCF-7	breast:
36	chr20:52560247..52562300-chr20:55803016..55805479,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000267309	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	nsv1055549	chr20:52555871-52586281	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv820262	chr20:52560768-52561389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv1382167	chr20:52560865-52560867	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52552000-52565200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:52552200-52565400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:52552400-52566000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:52552600-52564400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr20:52554600-52561000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr20:52554800-52565000	Weak transcription	Spleen	Spleen
7	chr20:52555400-52561000	Enhancers	Fetal Heart	heart
8	chr20:52556400-52561000	Enhancers	Fetal Lung	lung
9	chr20:52556400-52564000	Weak transcription	Esophagus	oesophagus
10	chr20:52556400-52564000	Weak transcription	Gastric	stomach
11	chr20:52556400-52565400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr20:52556600-52566000	Weak transcription	Aorta	Aorta
13	chr20:52556800-52564000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr20:52557000-52564200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr20:52557200-52565000	Weak transcription	Left Ventricle	heart
16	chr20:52557400-52569200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr20:52557800-52561000	Enhancers	Fetal Brain Male	brain
18	chr20:52557800-52565400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:52558000-52561000	Enhancers	Primary B cells from peripheral blood	blood
20	chr20:52558000-52561000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr20:52558000-52561000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr20:52558000-52565000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr20:52558000-52565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr20:52558000-52565400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr20:52558000-52565800	Weak transcription	Colonic Mucosa	Colon
26	chr20:52558000-52566000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:52558400-52561000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr20:52558400-52561000	Enhancers	Brain Anterior Caudate	brain
29	chr20:52558400-52569000	Weak transcription	Fetal Intestine Small	intestine
30	chr20:52558600-52561000	Enhancers	Stomach Mucosa	stomach
31	chr20:52558800-52564200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr20:52558800-52565200	Weak transcription	Small Intestine	intestine
33	chr20:52559000-52561200	Weak transcription	HSMMtube	muscle
34	chr20:52559000-52565400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr20:52559200-52565400	Weak transcription	Right Atrium	heart
36	chr20:52559400-52565000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr20:52559400-52565000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr20:52559600-52561000	Enhancers	Adipose Nuclei	Adipose
39	chr20:52559800-52561000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr20:52559800-52561000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr20:52560000-52564000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr20:52560000-52565200	Weak transcription	NHDF-Ad	bronchial
43	chr20:52560000-52565400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:52560000-52566200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:52560200-52561000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr20:52560200-52561000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr20:52560400-52561000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:52560400-52561000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr20:52560400-52561600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr20:52560400-52565000	Weak transcription	HMEC	breast

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