Variant report

Variant	rs545894936
Chromosome Location	chr20:1207206-1207207
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	POLR2A	chr20:1206545-1207326	K562	blood:	n/a	n/a
2	MAX	chr20:1206410-1207808	A549	lung:	n/a	chr20:1207386-1207395
3	MAX	chr20:1206472-1207693	A549	lung:	n/a	chr20:1207386-1207395
4	SP1	chr20:1207074-1207782	A549	lung:	n/a	chr20:1207150-1207164
5	MAZ	chr20:1206086-1207723	K562	blood:	n/a	chr20:1207386-1207395
6	ELF1	chr20:1206741-1207310	GM12878	blood:	n/a	n/a
7	BACH1	chr20:1206692-1207487	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB7A	chr20:1206549-1207438	ECC-1	luminal epithelium:	n/a	n/a
9	YY1	chr20:1207197-1207367	K562	blood:	n/a	n/a
10	ZBTB7A	chr20:1207055-1207504	K562	blood:	n/a	n/a
11	MAX	chr20:1206633-1207627	K562	blood:	n/a	chr20:1207386-1207395
12	HMGN3	chr20:1206678-1207310	K562	blood:	n/a	n/a
13	MAX	chr20:1206511-1207385	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr20:1206503-1207364	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr20:1206571-1207211	K562	blood:	n/a	chr20:1206872-1206886 chr20:1206846-1206855 chr20:1206875-1206889
16	MAX	chr20:1205936-1207530	HepG2	liver:	n/a	chr20:1207386-1207395
17	E2F6	chr20:1206580-1207383	H1-hESC	embryonic stem cell:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1206876-1206886
18	E2F6	chr20:1206579-1207319	H1-hESC	embryonic stem cell:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1206876-1206886
19	MAX	chr20:1206548-1207343	H1-hESC	embryonic stem cell:	n/a	n/a
20	CCNT2	chr20:1206635-1207632	K562	blood:	n/a	n/a
21	POLR2A	chr20:1206494-1207387	Gliobla	brain:	n/a	n/a
22	MAZ	chr20:1205938-1207684	IMR90	lung:	n/a	chr20:1207386-1207395
23	POLR2A	chr20:1206565-1207206	HEK293	kidney:	n/a	n/a
24	E2F6	chr20:1206570-1207243	A549	lung:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1206876-1206886
25	MAX	chr20:1206630-1207302	SK-N-SH	brain:	n/a	n/a
26	MAX	chr20:1206468-1207601	HCT-116	colon:	n/a	chr20:1207386-1207395
27	POLR2A	chr20:1206462-1207661	K562	blood:	n/a	n/a
28	UBTF	chr20:1206773-1207640	K562	blood:	n/a	n/a
29	POLR2A	chr20:1206572-1207397	K562	blood:	n/a	n/a
30	CTCF	chr20:1206633-1207896	SK-N-SH	brain:	n/a	n/a
31	MXI1	chr20:1206558-1207748	SK-N-SH	brain:	n/a	n/a
32	UBTF	chr20:1206657-1207634	K562	blood:	n/a	n/a
33	ZBTB7A	chr20:1207094-1207335	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr20:1206545-1207440	K562	blood:	n/a	n/a
35	E2F6	chr20:1206545-1207671	A549	lung:	n/a	chr20:1206879-1206888 chr20:1206875-1206885 chr20:1207390-1207402 chr20:1206876-1206886
36	MYC	chr20:1206668-1207564	K562	blood:	n/a	chr20:1207386-1207395
37	TCF12	chr20:1206611-1207453	A549	lung:	n/a	n/a
38	MAZ	chr20:1206723-1207288	HepG2	liver:	n/a	n/a
39	POLR2A	chr20:1206572-1207331	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr20:1206826-1207358	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZBTB7A	chr20:1206655-1207392	ECC-1	luminal epithelium:	n/a	n/a
42	ELF1	chr20:1207009-1207283	K562	blood:	n/a	n/a
43	TAF1	chr20:1206607-1207209	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3A	chr20:1206673-1207297	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr20:1206631-1207240	K562	blood:	n/a	n/a
46	POLR2A	chr20:1206593-1207444	K562	blood:	n/a	n/a
47	MAX	chr20:1206530-1207472	K562	blood:	n/a	chr20:1207386-1207395

No.	Distal block	Cell Line	Cell type
1	chr20:1206512..1208051-chr20:1245857..1247433,2	K562	blood:
2	chr20:1206586..1208814-chr20:1304748..1306483,2	K562	blood:
3	chr20:1206796..1208958-chr20:1209065..1211253,2	MCF-7	breast:
4	chr20:1207162..1208733-chr20:1230513..1232075,2	K562	blood:
5	chr20:1206971..1208847-chr20:1236164..1237785,2	K562	blood:
6	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:
7	chr20:1206916..1209904-chr20:1219433..1221518,2	K562	blood:

Variant related genes	Relation type
RAD21L1	TF binding region
ENSG00000244588	Chromatin interaction
ENSG00000234684	Chromatin interaction
ENSG00000101298	Chromatin interaction
ENSG00000125775	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv516776	chr20:1195784-1233893	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912586	chr20:1195784-1248286	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv518957	chr20:1195784-1250463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3436470	chr20:1205377-1207925	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3509885	chr20:1205427-1207700	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3509887	chr20:1205427-1207700	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv912587	chr20:1205886-1248286	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3435944	chr20:1206002-1207250	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1205800-1207400	Active TSS	Primary T cells from cord blood	blood
2	chr20:1205800-1207600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr20:1205800-1207600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr20:1205800-1207800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr20:1205800-1207800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:1205800-1207800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr20:1205800-1207800	Active TSS	Brain Cingulate Gyrus	brain
8	chr20:1206000-1207400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr20:1206000-1207400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr20:1206000-1207400	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr20:1206000-1207600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:1206000-1207600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:1206000-1207600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr20:1206000-1207600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:1206000-1207600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:1206000-1207600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:1206000-1207600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:1206000-1207600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr20:1206000-1207600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr20:1206000-1207600	Active TSS	Right Ventricle	heart
21	chr20:1206000-1207600	Active TSS	Hela-S3	cervix
22	chr20:1206000-1207600	Active TSS	NHDF-Ad	bronchial
23	chr20:1206000-1207800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:1206000-1207800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:1206000-1207800	Active TSS	Brain Anterior Caudate	brain
26	chr20:1206000-1207800	Active TSS	Psoas Muscle	Psoas
27	chr20:1206000-1207800	Bivalent/Poised TSS	NHEK	skin
28	chr20:1206000-1208000	Enhancers	Spleen	Spleen
29	chr20:1206000-1208000	Active TSS	K562	blood
30	chr20:1206200-1207400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr20:1206200-1207400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
32	chr20:1206200-1207400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr20:1206200-1207600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:1206200-1207600	Active TSS	NHLF	lung
35	chr20:1206600-1207400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:1206600-1207600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr20:1206600-1207600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr20:1206800-1207400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:1206800-1207400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
40	chr20:1206800-1207400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr20:1206800-1207400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
42	chr20:1206800-1207400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:1206800-1207400	Active TSS	Aorta	Aorta
44	chr20:1206800-1207400	Flanking Active TSS	Liver	Liver
45	chr20:1206800-1207400	Active TSS	Brain Angular Gyrus	brain
46	chr20:1206800-1207400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr20:1206800-1207400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr20:1206800-1207400	Bivalent Enhancer	Fetal Brain Male	brain
49	chr20:1206800-1207400	Active TSS	Gastric	stomach
50	chr20:1206800-1207400	Bivalent/Poised TSS	Left Ventricle	heart

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