Variant report

Variant	rs112062134
Chromosome Location	chr20:52476534-52476535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52476210..52479178-chr20:52479229..52481158,2	K562	blood:
2	chr20:52471901..52491673-chr20:55835708..55845674,34	MCF-7	breast:
3	chr12:120726893..120729772-chr20:52476403..52478337,2	MCF-7	breast:
4	chr20:52476198..52478320-chr20:52482797..52484408,2	K562	blood:
5	chr20:52476331..52478777-chr20:52492357..52493924,2	K562	blood:

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000101144	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	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
18	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
19	nsv828747	chr20:52475762-52484076	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
20	nsv828748	chr20:52475762-52484259	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
21	nsv828749	chr20:52475762-52484340	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
22	esv3353743	chr20:52476445-52485443	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	60 gene(s)	inside rSNPs	diseases
23	esv3395767	chr20:52476445-52485443	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	60 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	chr20:52453600-52480200	Weak transcription	Small Intestine	intestine
2	chr20:52468800-52481400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr20:52472200-52476600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr20:52472400-52480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:52473200-52480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:52474000-52476600	Enhancers	Stomach Mucosa	stomach
7	chr20:52474200-52476600	Enhancers	Duodenum Mucosa	Duodenum
8	chr20:52474600-52480200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:52474600-52480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr20:52474600-52481600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr20:52474800-52479600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr20:52474800-52480000	Weak transcription	Ovary	ovary
13	chr20:52474800-52480000	Weak transcription	A549	lung
14	chr20:52474800-52480200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr20:52474800-52480200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr20:52474800-52480200	Weak transcription	Fetal Thymus	thymus
17	chr20:52474800-52480200	Weak transcription	Pancreas	Pancrea
18	chr20:52474800-52480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:52474800-52480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:52474800-52482000	Weak transcription	Thymus	Thymus
21	chr20:52474800-52482600	Weak transcription	Left Ventricle	heart
22	chr20:52475000-52479600	Weak transcription	Fetal Kidney	kidney
23	chr20:52475000-52480000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr20:52475000-52480200	Weak transcription	Primary T cells from cord blood	blood
25	chr20:52475000-52480200	Weak transcription	Colonic Mucosa	Colon
26	chr20:52475200-52482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:52475400-52480000	Weak transcription	Fetal Intestine Large	intestine
28	chr20:52475800-52477200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr20:52476200-52476600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr20:52476200-52476600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr20:52476200-52476600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:52476200-52476600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr20:52476200-52476600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:52476200-52476600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr20:52476200-52476600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:52476200-52476600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr20:52476200-52476600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:52476200-52476600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:52476200-52476600	ZNF genes & repeats	Fetal Brain Male	brain
40	chr20:52476200-52476600	Enhancers	Fetal Intestine Small	intestine
41	chr20:52476200-52476600	Enhancers	Fetal Muscle Trunk	muscle
42	chr20:52476200-52476600	Enhancers	Fetal Muscle Leg	muscle
43	chr20:52476200-52476600	Enhancers	Placenta	Placenta
44	chr20:52476200-52476600	Enhancers	Fetal Stomach	stomach
45	chr20:52476200-52476600	Enhancers	Gastric	stomach
46	chr20:52476200-52476600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr20:52476200-52476600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr20:52476200-52476600	Enhancers	Spleen	Spleen
49	chr20:52476200-52476800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr20:52476200-52476800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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