Variant report

Variant	rs732377
Chromosome Location	chr20:52558410-52558411
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59474996..59480161-chr20:52556121..52561884,6	MCF-7	breast:
2	chr20:52557853..52560053-chr20:52573644..52576413,2	K562	blood:
3	chr20:52551745..52571491-chr20:55837843..55848700,39	MCF-7	breast:
4	chr20:46413293..46415823-chr20:52557677..52560611,2	MCF-7	breast:
5	chr17:59488616..59494924-chr20:52554630..52559372,9	MCF-7	breast:
6	chr20:52557746..52563146-chr20:52657006..52659772,4	MCF-7	breast:
7	chr17:56707751..56710392-chr20:52555190..52558925,4	MCF-7	breast:
8	chr20:52554098..52560340-chr20:52684210..52688448,9	MCF-7	breast:
9	chr17:59489843..59492538-chr20:52557995..52559827,2	MCF-7	breast:
10	chr17:59821647..59823394-chr20:52558148..52560455,2	MCF-7	breast:
11	chr17:56756569..56758414-chr20:52557651..52559587,2	MCF-7	breast:
12	chr20:52553226..52558762-chr20:55837122..55843874,19	MCF-7	breast:
13	chr20:52558114..52560267-chr20:55792909..55794568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265595	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000064787	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000212195	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1055251	0.83[LWK][hapmap]
rs4141264	0.82[CEU][hapmap]
rs6013845	0.82[MEX][hapmap]
rs6022865	0.85[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs719204	0.86[YRI][hapmap]

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	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52549000-52558800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr20:52552000-52565200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:52552200-52565400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:52552400-52566000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:52552600-52564400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr20:52552800-52560200	Weak transcription	Primary T cells from cord blood	blood
7	chr20:52552800-52560200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr20:52553800-52558600	Enhancers	HepG2	liver
9	chr20:52554200-52559200	Enhancers	K562	blood
10	chr20:52554600-52560000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:52554600-52561000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr20:52554800-52565000	Weak transcription	Spleen	Spleen
13	chr20:52555200-52559400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr20:52555400-52559400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:52555400-52561000	Enhancers	Fetal Heart	heart
16	chr20:52555800-52559000	Enhancers	Colon Smooth Muscle	Colon
17	chr20:52556000-52558800	Enhancers	Small Intestine	intestine
18	chr20:52556000-52559200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:52556000-52559200	Enhancers	Fetal Muscle Leg	muscle
20	chr20:52556000-52560400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:52556400-52558600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:52556400-52559000	Enhancers	NHDF-Ad	bronchial
23	chr20:52556400-52560800	Enhancers	Primary B cells from cord blood	blood
24	chr20:52556400-52561000	Enhancers	Fetal Lung	lung
25	chr20:52556400-52564000	Weak transcription	Esophagus	oesophagus
26	chr20:52556400-52564000	Weak transcription	Gastric	stomach
27	chr20:52556400-52565400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr20:52556600-52559400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:52556600-52559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:52556600-52566000	Weak transcription	Aorta	Aorta
31	chr20:52556800-52559400	Flanking Active TSS	GM12878-XiMat	blood
32	chr20:52556800-52564000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr20:52557000-52558800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr20:52557000-52558800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr20:52557000-52559800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr20:52557000-52560000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr20:52557000-52560200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr20:52557000-52560400	Enhancers	Fetal Stomach	stomach
39	chr20:52557000-52560600	Weak transcription	NHEK	skin
40	chr20:52557000-52564200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr20:52557200-52559000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr20:52557200-52559200	Enhancers	Fetal Thymus	thymus
43	chr20:52557200-52559800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr20:52557200-52560000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:52557200-52560600	Weak transcription	Hela-S3	cervix
46	chr20:52557200-52565000	Weak transcription	Left Ventricle	heart
47	chr20:52557400-52559200	Weak transcription	Liver	Liver
48	chr20:52557400-52559400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr20:52557400-52560400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr20:52557400-52569200	Weak transcription	Rectal Smooth Muscle	rectum

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