Variant report

Variant	rs71330293
Chromosome Location	chr20:13201822-13201823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr20:13200483-13201847	H1-hESC	embryonic stem cell:	n/a	chr20:13201811-13201821
2	MAX	chr20:13200483-13201854	H1-hESC	embryonic stem cell:	n/a	chr20:13201811-13201821
3	HDAC2	chr20:13201450-13202659	HepG2	liver:	n/a	n/a
4	YY1	chr20:13201199-13202176	HepG2	liver:	n/a	chr20:13202033-13202047 chr20:13201742-13201753 chr20:13202119-13202130 chr20:13201972-13201981 chr20:13201814-13201823 chr20:13202015-13202029 chr20:13202116-13202127 chr20:13202021-13202035 chr20:13202026-13202035 chr20:13201736-13201745 chr20:13202119-13202128 chr20:13202038-13202049 chr20:13202113-13202124 chr20:13201808-13201822 chr20:13202012-13202023 chr20:13202116-13202125 chr20:13202117-13202131 chr20:13201946-13201960 chr20:13202122-13202131 chr20:13202120-13202134
5	MYC	chr20:13201811-13201932	MCF10A-Er-Src	breast:	n/a	chr20:13201811-13201821
6	MAX	chr20:13201522-13201896	ECC-1	luminal epithelium:	n/a	chr20:13201811-13201821
7	ZNF263	chr20:13200617-13202873	HEK293-T-REx	kidney:	n/a	chr20:13202352-13202361 chr20:13201867-13201888 chr20:13200798-13200807
8	E2F6	chr20:13200473-13201929	H1-hESC	embryonic stem cell:	n/a	chr20:13200473-13200480 chr20:13200707-13200714 chr20:13200707-13200714 chr20:13200703-13200715 chr20:13201661-13201668 chr20:13200707-13200714 chr20:13201736-13201745
9	E2F6	chr20:13200224-13201896	H1-hESC	embryonic stem cell:	n/a	chr20:13200473-13200480 chr20:13200707-13200714 chr20:13200707-13200714 chr20:13200703-13200715 chr20:13201661-13201668 chr20:13200707-13200714 chr20:13201736-13201745
10	POLR2A	chr20:13201388-13202680	HepG2	liver:	n/a	n/a
11	CTBP2	chr20:13200367-13201967	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr20:13200645-13203023	HepG2	liver:	n/a	chr20:13202046-13202056 chr20:13201811-13201821 chr20:13202734-13202745 chr20:13202734-13202745 chr20:13202170-13202180
13	CTCF	chr20:13201812-13201831	MCF-7	breast:	n/a	n/a
14	MAX	chr20:13200556-13202991	HepG2	liver:	n/a	chr20:13202046-13202056 chr20:13201811-13201821 chr20:13202734-13202745 chr20:13202734-13202745 chr20:13202170-13202180
15	ZBTB7A	chr20:13201210-13201860	ECC-1	luminal epithelium:	n/a	chr20:13201454-13201463 chr20:13201691-13201699
16	MYC	chr20:13201811-13201873	MCF-7	breast:	n/a	chr20:13201811-13201821
17	ZNF143	chr20:13201778-13203253	H1-hESC	embryonic stem cell:	n/a	chr20:13202134-13202144 chr20:13202016-13202026 chr20:13202039-13202057
18	POLR2A	chr20:13201542-13201875	MCF-7	breast:	n/a	n/a
19	SIN3A	chr20:13200506-13203458	H1-hESC	embryonic stem cell:	n/a	chr20:13202323-13202334 chr20:13201060-13201071 chr20:13200983-13200994 chr20:13202023-13202034 chr20:13202590-13202601 chr20:13202086-13202099 chr20:13201538-13201551

Variant related genes	Relation type
ISM1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35907305	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6033642	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv912684	chr20:12734299-13311983	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1063587	chr20:12756524-13330103	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544185	chr20:12756524-13330103	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv916296	chr20:12756605-13329940	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1067720	chr20:12756725-13329963	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv532513	chr20:12756725-13329963	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1064901	chr20:12773504-13318421	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv912685	chr20:13134768-13234124	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3386643	chr20:13201202-13203450	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
16	esv10466	chr20:13201379-13202490	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	nsv585434	chr20:13201434-13202356	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13199800-13203400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr20:13199800-13203600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr20:13200000-13203000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:13200000-13203600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr20:13200000-13203600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr20:13200000-13203600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr20:13200200-13203000	Active TSS	Aorta	Aorta
8	chr20:13200200-13203200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:13200200-13203200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr20:13200600-13202800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:13200600-13203600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr20:13200800-13202600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr20:13200800-13202600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr20:13200800-13203000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:13200800-13203200	Active TSS	Brain Angular Gyrus	brain
16	chr20:13201000-13202600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr20:13201000-13202800	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr20:13201200-13202400	Bivalent/Poised TSS	NHLF	lung
19	chr20:13201200-13202600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr20:13201400-13202000	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr20:13201400-13202000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr20:13201400-13202400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr20:13201400-13202400	Active TSS	Esophagus	oesophagus
24	chr20:13201400-13202400	Active TSS	Lung	lung
25	chr20:13201400-13202400	Active TSS	Pancreas	Pancrea
26	chr20:13201400-13202600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:13201400-13202600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr20:13201400-13202600	Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr20:13201400-13202600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr20:13201400-13202600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr20:13201400-13202600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr20:13201400-13202600	Active TSS	Left Ventricle	heart
33	chr20:13201400-13202600	Active TSS	Right Atrium	heart
34	chr20:13201400-13202600	Active TSS	HSMM	muscle
35	chr20:13201400-13202600	Active TSS	NHEK	skin
36	chr20:13201400-13202800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr20:13201400-13202800	Active TSS	Colon Smooth Muscle	Colon
38	chr20:13201400-13202800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr20:13201400-13202800	Active TSS	Psoas Muscle	Psoas
40	chr20:13201400-13203000	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr20:13201400-13203200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr20:13201600-13202000	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
43	chr20:13201600-13202000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr20:13201600-13202000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr20:13201600-13202400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:13201600-13202400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr20:13201600-13202400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr20:13201600-13202400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:13201600-13202400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr20:13201600-13202400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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