Variant report

Variant	rs540430927
Chromosome Location	chr20:52475347-52475348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52474954..52475497-chr5:73168089..73168589,2	MCF-7	breast:
2	chr20:52471901..52491673-chr20:55835708..55845674,34	MCF-7	breast:
3	chr20:52368202..52371256-chr20:52472915..52475847,3	K562	blood:

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv18025	chr20:52464720-52486135	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
7	nsv586222	chr20:52473679-52506380	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	inside rSNPs	diseases
8	esv3378662	chr20:52474345-52485443	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	60 gene(s)	inside rSNPs	diseases
9	esv3341653	chr20:52474345-52485543	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	60 gene(s)	inside rSNPs	diseases
10	esv3381391	chr20:52474445-52485443	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	60 gene(s)	inside rSNPs	diseases
11	nsv820856	chr20:52474672-52484379	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
12	nsv828744	chr20:52474672-52484379	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
13	nsv828745	chr20:52474735-52484379	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	nsv962637	chr20:52474736-52483715	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	54 gene(s)	inside rSNPs	diseases
15	nsv828746	chr20:52474785-52484076	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
16	esv16592	chr20:52474800-52484346	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
17	nsv586223	chr20:52474850-52475882	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	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
19	nsv586225	chr20:52474947-52475777	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv586226	chr20:52474947-52475882	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3382989	chr20:52475045-52485243	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	60 gene(s)	inside rSNPs	diseases
22	nsv586227	chr20:52475093-52475829	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv586228	chr20:52475093-52475882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52453600-52480200	Weak transcription	Small Intestine	intestine
2	chr20:52456600-52476200	Weak transcription	Gastric	stomach
3	chr20:52468800-52476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:52468800-52481400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:52472200-52476600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr20:52472400-52480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:52473200-52480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr20:52473400-52476200	Weak transcription	Placenta	Placenta
9	chr20:52473400-52476200	Weak transcription	Spleen	Spleen
10	chr20:52473600-52476400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr20:52474000-52475400	Enhancers	Fetal Intestine Large	intestine
12	chr20:52474000-52476600	Enhancers	Stomach Mucosa	stomach
13	chr20:52474200-52475400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:52474200-52476600	Enhancers	Duodenum Mucosa	Duodenum
15	chr20:52474400-52476200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr20:52474600-52476200	Weak transcription	Aorta	Aorta
17	chr20:52474600-52480200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:52474600-52480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr20:52474600-52481600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr20:52474800-52476200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr20:52474800-52476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr20:52474800-52476200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr20:52474800-52476200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr20:52474800-52476200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr20:52474800-52476200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr20:52474800-52476200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr20:52474800-52476200	Weak transcription	Fetal Muscle Leg	muscle
28	chr20:52474800-52476200	Weak transcription	Fetal Stomach	stomach
29	chr20:52474800-52476200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr20:52474800-52476200	Weak transcription	K562	blood
31	chr20:52474800-52476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr20:52474800-52479600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr20:52474800-52480000	Weak transcription	Ovary	ovary
34	chr20:52474800-52480000	Weak transcription	A549	lung
35	chr20:52474800-52480200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr20:52474800-52480200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr20:52474800-52480200	Weak transcription	Fetal Thymus	thymus
38	chr20:52474800-52480200	Weak transcription	Pancreas	Pancrea
39	chr20:52474800-52480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:52474800-52480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:52474800-52482000	Weak transcription	Thymus	Thymus
42	chr20:52474800-52482600	Weak transcription	Left Ventricle	heart
43	chr20:52475000-52476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:52475000-52476200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr20:52475000-52476200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:52475000-52476200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr20:52475000-52476200	Weak transcription	Fetal Lung	lung
48	chr20:52475000-52476200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr20:52475000-52479600	Weak transcription	Fetal Kidney	kidney
50	chr20:52475000-52480000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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