Variant report

Variant	rs6013832
Chromosome Location	chr20:52533231-52533232
allele	A/G
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52530700..52533425-chr21:39499223..39501084,2	MCF-7	breast:
2	chr20:52194811..52196558-chr20:52531148..52533348,52	MCF-7	breast:
3	chr20:52530267..52534413-chr20:55825060..55827185,3	MCF-7	breast:
4	chr17:56707273..56710524-chr20:52529991..52534140,5	MCF-7	breast:
5	chr20:52485654..52487265-chr20:52530091..52533503,52	MCF-7	breast:
6	chr20:52532038..52534829-chr6:88258936..88261704,2	MCF-7	breast:
7	chr20:52484799..52486540-chr20:52532724..52534997,2	K562	blood:
8	chr20:52532602..52534914-chr20:55844539..55846886,2	MCF-7	breast:
9	chr20:52532234..52534177-chr20:55797391..55800246,2	MCF-7	breast:
10	chr20:52532392..52535656-chr20:52545674..52551256,6	K562	blood:
11	chr20:44561645..44564016-chr20:52531641..52534095,2	MCF-7	breast:
12	chr20:52367336..52371354-chr20:52530304..52536216,9	K562	blood:
13	chr20:52531541..52533687-chr20:52556070..52557407,30	MCF-7	breast:
14	chr20:52191644..52193527-chr20:52531481..52534421,2	K562	blood:
15	chr20:52531111..52535135-chr20:55839386..55843893,7	MCF-7	breast:
16	chr20:52531364..52533643-chr20:55797991..55800661,2	MCF-7	breast:
17	chr20:52527549..52536399-chr20:55835927..55843462,13	MCF-7	breast:
18	chr20:52531918..52533793-chr20:55847031..55848624,2	MCF-7	breast:
19	chr20:52208864..52210775-chr20:52531412..52533941,2	K562	blood:
20	chr20:52532687..52533610-chr3:64097267..64098127,2	MCF-7	breast:
21	chr20:52194781..52195726-chr20:52532742..52533626,2	K562	blood:
22	chr17:57915354..57917478-chr20:52532033..52533836,2	MCF-7	breast:
23	chr20:52531138..52533518-chr7:158371988..158374538,2	MCF-7	breast:
24	chr20:52531219..52535631-chr20:52536597..52539689,4	K562	blood:
25	chr20:52194187..52197112-chr20:52530766..52534185,128	MCF-7	breast:
26	chr20:46160845..46163600-chr20:52531345..52533409,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000100982	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000226308	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73914433	1.00[EUR][1000 genomes];1.00[ASN][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	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	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52530000-52534800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:52532400-52533400	Weak transcription	Ovary	ovary
3	chr20:52532400-52533400	Enhancers	Pancreas	Pancrea
4	chr20:52532400-52533400	Enhancers	Small Intestine	intestine
5	chr20:52532400-52533600	Weak transcription	Aorta	Aorta
6	chr20:52532400-52533800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:52532400-52534000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:52532400-52534000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:52532400-52534400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr20:52532400-52534800	Enhancers	Fetal Heart	heart
11	chr20:52532400-52534800	Enhancers	HMEC	breast
12	chr20:52532400-52534800	Enhancers	HSMMtube	muscle
13	chr20:52532400-52537400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:52532400-52538400	Weak transcription	Esophagus	oesophagus
15	chr20:52532400-52542600	Weak transcription	Gastric	stomach
16	chr20:52532600-52533400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:52532600-52533400	Weak transcription	Fetal Brain Female	brain
18	chr20:52532600-52533600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:52532600-52533800	Enhancers	Stomach Mucosa	stomach
20	chr20:52532600-52534000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr20:52532600-52534000	Enhancers	Fetal Muscle Trunk	muscle
22	chr20:52532600-52534200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr20:52532600-52534400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:52532600-52534400	Enhancers	Primary B cells from peripheral blood	blood
25	chr20:52532600-52534400	Enhancers	Right Atrium	heart
26	chr20:52532600-52534400	Enhancers	Right Ventricle	heart
27	chr20:52532600-52534600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:52532600-52534600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr20:52532600-52534800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:52532600-52534800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:52532600-52534800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr20:52532600-52534800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:52532600-52534800	Enhancers	Colon Smooth Muscle	Colon
34	chr20:52532600-52534800	Enhancers	Fetal Muscle Leg	muscle
35	chr20:52532600-52534800	Enhancers	Fetal Stomach	stomach
36	chr20:52532600-52535000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr20:52532600-52535000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr20:52532600-52535000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr20:52532600-52535200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr20:52532600-52535200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr20:52532600-52535200	Enhancers	Placenta	Placenta
42	chr20:52532600-52535800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr20:52532600-52535800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr20:52532600-52538400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr20:52532800-52533600	Enhancers	K562	blood
46	chr20:52532800-52534200	Enhancers	Stomach Smooth Muscle	stomach
47	chr20:52532800-52534200	Enhancers	NH-A	brain
48	chr20:52532800-52534600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr20:52532800-52534600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr20:52532800-52534600	Enhancers	Fetal Lung	lung

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