Variant report

Variant	rs72993689
Chromosome Location	chr1:152021402-152021403
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	chr1:152019922-152021446	A549	lung:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
2	POLR2A	chr1:152018623-152021659	Hela-S3	cervix:	n/a	n/a
3	SP1	chr1:152019721-152021469	HCT-116	colon:	n/a	chr1:152021089-152021103 chr1:152020789-152020799 chr1:152021093-152021107 chr1:152020789-152020799
4	STAT3	chr1:152019817-152022637	MCF10A-Er-Src	breast:	n/a	chr1:152021147-152021159 chr1:152021094-152021106
5	TCF12	chr1:152019914-152021407	MCF-7	breast:	n/a	n/a
6	USF1	chr1:152020082-152021473	A549	lung:	n/a	chr1:152021081-152021097
7	PML	chr1:152019974-152021425	MCF-7	breast:	n/a	n/a
8	GATA3	chr1:152020621-152021465	MCF-7	breast:	n/a	n/a
9	STAT3	chr1:152019812-152021476	MCF10A-Er-Src	breast:	n/a	chr1:152021147-152021159 chr1:152021094-152021106
10	STAT1	chr1:152019969-152021659	Hela-S3	cervix:	n/a	chr1:152021147-152021159 chr1:152021094-152021106
11	SP1	chr1:152019791-152021473	A549	lung:	n/a	chr1:152021089-152021103 chr1:152020789-152020799 chr1:152021093-152021107 chr1:152020789-152020799
12	JUND	chr1:152019837-152022990	Hela-S3	cervix:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020738-152020749 chr1:152020040-152020052
13	GABPA	chr1:152019700-152021532	MCF-7	breast:	n/a	n/a
14	BCL3	chr1:152020132-152021515	A549	lung:	n/a	n/a
15	HDAC2	chr1:152019720-152021521	MCF-7	breast:	n/a	n/a
16	TCF7L2	chr1:152019898-152021429	MCF-7	breast:	n/a	chr1:152020042-152020051 chr1:152020062-152020076 chr1:152020064-152020073 chr1:152020739-152020748 chr1:152020063-152020073 chr1:152020740-152020749 chr1:152020061-152020077
17	TEAD4	chr1:152020351-152021449	A549	lung:	n/a	n/a
18	CEBPB	chr1:152020299-152021446	A549	lung:	n/a	n/a
19	JUND	chr1:152019838-152021519	MCF-7	breast:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020738-152020749 chr1:152020040-152020052
20	EP300	chr1:152020095-152021436	A549	lung:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
21	FOSL2	chr1:152019745-152021451	A549	lung:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020040-152020052
22	MAX	chr1:152019878-152022772	Hela-S3	cervix:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
23	GATA3	chr1:152019734-152021874	MCF-7	breast:	n/a	n/a
24	POLR2A	chr1:152018947-152022632	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA3	chr1:152019870-152021476	SK-N-SH	brain:	n/a	n/a
26	GATA1	chr1:152020175-152021588	PBDE	blood:	n/a	n/a
27	GTF3C2	chr1:152021367-152022528	Hela-S3	cervix:	n/a	n/a
28	NR2F2	chr1:152019824-152021522	MCF-7	breast:	n/a	n/a
29	NR2F2	chr1:152019762-152021563	MCF-7	breast:	n/a	n/a
30	SP1	chr1:152019749-152021510	HCT-116	colon:	n/a	chr1:152021089-152021103 chr1:152020789-152020799 chr1:152021093-152021107 chr1:152020789-152020799
31	SP1	chr1:152019950-152021474	A549	lung:	n/a	chr1:152021089-152021103 chr1:152020789-152020799 chr1:152021093-152021107 chr1:152020789-152020799
32	FOS	chr1:152019885-152021437	MCF10A-Er-Src	breast:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020738-152020749 chr1:152020740-152020749 chr1:152020040-152020052
33	POLR2A	chr1:152021382-152021688	Hela-S3	cervix:	n/a	n/a
34	STAT3	chr1:152019895-152022677	MCF10A-Er-Src	breast:	n/a	chr1:152021147-152021159 chr1:152021094-152021106
35	CEBPB	chr1:152019792-152021475	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:152019634-152022109	Hela-S3	cervix:	n/a	n/a
37	FOXA2	chr1:152020310-152021404	A549	lung:	n/a	n/a
38	MAX	chr1:152019725-152021445	MCF-7	breast:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
39	TBP	chr1:152019905-152021405	Hela-S3	cervix:	n/a	n/a
40	GATA3	chr1:152019798-152021570	MCF-7	breast:	n/a	n/a
41	POLR2A	chr1:152018724-152024242	MCF10A-Er-Src	breast:	n/a	n/a
42	ZNF217	chr1:152019810-152021465	MCF-7	breast:	n/a	n/a
43	JUND	chr1:152019829-152021464	HCT-116	colon:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020738-152020749 chr1:152020040-152020052
44	GATA3	chr1:152019860-152021652	MCF-7	breast:	n/a	n/a
45	FOXA2	chr1:152020197-152021497	A549	lung:	n/a	n/a
46	MAX	chr1:152019814-152021531	A549	lung:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
47	CEBPB	chr1:152019951-152022967	Hela-S3	cervix:	n/a	chr1:152022092-152022103
48	FOS	chr1:152019813-152021410	MCF10A-Er-Src	breast:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020738-152020749 chr1:152020740-152020749 chr1:152020040-152020052
49	TCF7L2	chr1:152019183-152021811	Hela-S3	cervix:	n/a	chr1:152020042-152020051 chr1:152020062-152020076 chr1:152020064-152020073 chr1:152020739-152020748 chr1:152020063-152020073 chr1:152020740-152020749 chr1:152020061-152020077
50	EP300	chr1:152019947-152021420	Hela-S3	cervix:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295

No.	Distal block	Cell Line	Cell type
1	chr1:152021342..152023033-chr1:210545433..210547102,2	MCF-7	breast:
2	chr1:152021017..152021518-chr20:43588441..43588993,2	Hela-S3	cervix:
3	chr1:152019899..152022172-chr1:152059534..152062643,3	MCF-7	breast:
4	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
5	chr1:152020471..152023395-chr1:152032705..152034549,2	MCF-7	breast:
6	chr1:152020642..152022184-chr1:152137320..152138957,2	MCF-7	breast:
7	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
8	chr1:152019311..152021605-chr1:152136763..152140691,3	MCF-7	breast:
9	chr1:152020825..152023230-chr1:152081998..152084966,2	MCF-7	breast:
10	chr1:151881661..151883557-chr1:152019981..152021490,2	K562	blood:
11	chr1:152020714..152022393-chr1:152056562..152059059,3	MCF-7	breast:
12	chr1:152020176..152022085-chr1:152129939..152131843,2	MCF-7	breast:
13	chr1:151483025..151485659-chr1:152019731..152022240,2	MCF-7	breast:
14	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:

Variant related genes	Relation type
S100A11	TF binding region
ENSG00000215853	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000237975	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000182898	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000143375	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16833807	0.92[ASN][1000 genomes]
rs16833809	0.91[ASN][1000 genomes]
rs16833811	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16833817	1.00[ASN][1000 genomes]
rs2338311	0.91[ASN][1000 genomes]
rs72477383	0.91[ASN][1000 genomes]
rs72477384	0.91[ASN][1000 genomes]
rs72477385	0.91[ASN][1000 genomes]
rs72477387	0.91[ASN][1000 genomes]
rs72993684	0.82[ASN][1000 genomes]
rs72993685	1.00[AMR][1000 genomes]
rs72993686	0.92[ASN][1000 genomes]
rs72993691	0.91[ASN][1000 genomes]
rs7416722	0.91[ASN][1000 genomes]
rs7540075	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152018600-152021600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:152019400-152021800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:152019800-152022600	Enhancers	Small Intestine	intestine
4	chr1:152020400-152022200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:152020600-152021600	Enhancers	Placenta	Placenta
6	chr1:152020800-152022000	Enhancers	Primary T cells from cord blood	blood
7	chr1:152021000-152021600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:152021000-152021800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:152021000-152022000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:152021000-152023800	Weak transcription	Fetal Kidney	kidney
11	chr1:152021000-152024200	Enhancers	Fetal Intestine Small	intestine
12	chr1:152021000-152024200	Enhancers	Stomach Mucosa	stomach
13	chr1:152021000-152025200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:152021200-152021600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:152021200-152021600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:152021200-152021600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:152021200-152021600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:152021200-152021600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:152021200-152021600	Enhancers	Right Atrium	heart
20	chr1:152021200-152021600	Flanking Active TSS	Hela-S3	cervix
21	chr1:152021200-152021600	Active TSS	HSMMtube	muscle
22	chr1:152021200-152022000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:152021200-152022200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:152021200-152022200	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:152021200-152023000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:152021200-152023000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:152021200-152023000	Weak transcription	Esophagus	oesophagus
28	chr1:152021200-152023600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:152021200-152023600	Weak transcription	Fetal Thymus	thymus
30	chr1:152021200-152024000	Enhancers	Fetal Intestine Large	intestine
31	chr1:152021200-152024200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:152021200-152024200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:152021200-152024200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr1:152021200-152024200	Enhancers	NHDF-Ad	bronchial
35	chr1:152021200-152024600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:152021200-152024600	Enhancers	Osteobl	bone
37	chr1:152021200-152025200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:152021200-152025200	Enhancers	HMEC	breast
39	chr1:152021200-152025400	Weak transcription	Colonic Mucosa	Colon
40	chr1:152021400-152021600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:152021400-152021600	Enhancers	Primary B cells from cord blood	blood
42	chr1:152021400-152021600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:152021400-152021600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr1:152021400-152021600	Enhancers	K562	blood
45	chr1:152021400-152021800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:152021400-152022800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:152021400-152023000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:152021400-152023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:152021400-152023200	Weak transcription	NHLF	lung
50	chr1:152021400-152023800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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