Variant report

Variant	rs16852574
Chromosome Location	chr1:165867168-165867169
allele	A/G
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	chr1:165867002-165867171	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr1:165867110-165867237	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr1:165866878-165867470	A549	lung:	n/a	n/a
4	POLR2A	chr1:165864447-165870499	IMR90	lung:	n/a	n/a
5	CEBPB	chr1:165866997-165867355	K562	blood:	n/a	n/a
6	POLR2A	chr1:165866589-165867211	GM12878	blood:	n/a	n/a
7	FOS	chr1:165866987-165867211	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:165867061-165867292	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr1:165867016-165867228	MCF10A-Er-Src	breast:	n/a	chr1:165867134-165867145
10	CEBPB	chr1:165867093-165867202	HepG2	liver:	n/a	n/a
11	FOS	chr1:165867075-165867207	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr1:165866995-165867330	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr1:165866997-165867341	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:165867012-165867344	A549	lung:	n/a	n/a
15	CEBPB	chr1:165866985-165867354	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr1:165866977-165867353	A549	lung:	n/a	n/a
17	CEBPB	chr1:165866946-165867395	IMR90	lung:	n/a	n/a
18	MAZ	chr1:165865258-165869632	IMR90	lung:	n/a	chr1:165865613-165865623 chr1:165869315-165869324 chr1:165868230-165868246
19	RCOR1	chr1:165866753-165869463	IMR90	lung:	n/a	n/a
20	STAT3	chr1:165866994-165867294	MCF10A-Er-Src	breast:	n/a	chr1:165867134-165867145
21	MYC	chr1:165866987-165867244	MCF10A-Er-Src	breast:	n/a	n/a
22	GATA2	chr1:165867073-165868162	SH-SY5Y	brain:	n/a	n/a
23	FOS	chr1:165866738-165867299	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:165866800-165867379	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr1:165867097-165867233	MCF10A-Er-Src	breast:	n/a	chr1:165867134-165867145
26	POLR2A	chr1:165867097-165867216	MCF10A-Er-Src	breast:	n/a	n/a
27	CHD1	chr1:165864264-165870908	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
2	chr1:165864751..165867551-chr1:165869428..165872327,2	MCF-7	breast:
3	chr1:165865590..165867846-chr1:165871493..165873264,2	MCF-7	breast:

Variant related genes	Relation type
UCK2	TF binding region
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000236364	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1061771	0.88[AFR][1000 genomes]
rs1061772	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10918307	0.88[AFR][1000 genomes]
rs12084653	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12090859	0.92[AFR][1000 genomes]
rs3790666	0.89[AFR][1000 genomes]
rs3790673	0.80[AFR][1000 genomes]
rs61057126	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6666697	0.92[AFR][1000 genomes]
rs6681761	0.99[AFR][1000 genomes]
rs6693108	0.99[AFR][1000 genomes]
rs73031410	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73031470	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165854000-165869600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:165854600-165883000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:165856400-165869600	Weak transcription	Fetal Kidney	kidney
4	chr1:165856600-165878800	Weak transcription	Small Intestine	intestine
5	chr1:165858200-165881200	Strong transcription	Dnd41	blood
6	chr1:165858400-165870000	Strong transcription	K562	blood
7	chr1:165858400-165881000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:165858600-165872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:165858600-165872600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:165859000-165881000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:165859200-165870400	Strong transcription	Fetal Stomach	stomach
13	chr1:165859200-165871000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr1:165859200-165871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:165859200-165878000	Strong transcription	Hela-S3	cervix
16	chr1:165859200-165880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:165859200-165881000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:165859400-165868000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:165859400-165868400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr1:165859400-165868400	Strong transcription	HepG2	liver
21	chr1:165859400-165871200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr1:165859400-165880200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:165859400-165880400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:165859400-165880600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:165859400-165880600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:165859600-165870200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:165859600-165870800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:165859600-165880600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:165859800-165870600	Strong transcription	Fetal Brain Female	brain
30	chr1:165860000-165880200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:165860400-165867600	Strong transcription	Fetal Intestine Large	intestine
32	chr1:165860400-165869200	Strong transcription	Brain Germinal Matrix	brain
33	chr1:165860400-165870400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:165860600-165868200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:165861400-165867400	Enhancers	Fetal Heart	heart
36	chr1:165861600-165869800	Weak transcription	Fetal Brain Male	brain
37	chr1:165861800-165869400	Weak transcription	Ovary	ovary
38	chr1:165862000-165871800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:165862400-165867200	Weak transcription	Right Atrium	heart
40	chr1:165862400-165871800	Weak transcription	Brain Anterior Caudate	brain
41	chr1:165863400-165868000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:165863600-165867600	Genic enhancers	NHLF	lung
43	chr1:165863800-165868800	Strong transcription	Fetal Intestine Small	intestine
44	chr1:165864000-165868000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:165864000-165870000	Enhancers	Left Ventricle	heart
46	chr1:165864200-165868000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:165864200-165869400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:165864200-165870000	Enhancers	Right Ventricle	heart
49	chr1:165864200-165870800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr1:165864600-165867400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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