Variant report

Variant	rs61772595
Chromosome Location	chr1:56983585-56983586
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	chr1:56981456-56985428	PFSK-1	brain:	n/a	n/a
2	HMGN3	chr1:56983445-56983832	K562	blood:	n/a	n/a
3	JUN	chr1:56983444-56983833	K562	blood:	n/a	chr1:56983596-56983608 chr1:56983597-56983607 chr1:56983598-56983606 chr1:56983597-56983607
4	POLR2A	chr1:56980412-56984262	HepG2	liver:	n/a	n/a
5	BHLHE40	chr1:56981787-56983667	K562	blood:	n/a	n/a
6	ZNF143	chr1:56982008-56983735	K562	blood:	n/a	chr1:56983633-56983651
7	JUND	chr1:56981492-56983814	K562	blood:	n/a	chr1:56983596-56983608 chr1:56982084-56982093 chr1:56983597-56983607 chr1:56982703-56982712 chr1:56983598-56983606 chr1:56983597-56983607
8	MAFK	chr1:56982048-56983892	K562	blood:	n/a	chr1:56982464-56982478 chr1:56982465-56982476 chr1:56982465-56982481 chr1:56982466-56982477 chr1:56982465-56982476 chr1:56982465-56982480 chr1:56982466-56982477
9	EP300	chr1:56981640-56983854	K562	blood:	n/a	chr1:56982453-56982467 chr1:56982483-56982497 chr1:56982452-56982466 chr1:56982923-56982937 chr1:56982256-56982270 chr1:56982454-56982468
10	GATA3	chr1:56983378-56983706	T-47D	breast:	n/a	chr1:56983596-56983603
11	MAFF	chr1:56983443-56983823	K562	blood:	n/a	n/a
12	RCOR1	chr1:56981263-56983744	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56975331..56977635-chr1:56982955..56985243,2	MCF-7	breast:

Variant related genes	Relation type
PPAP2B	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1041602	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418977	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416285	1.00[ASN][1000 genomes]
rs17470169	0.89[EUR][1000 genomes]
rs1759753	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777279	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819750	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3927760	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3927761	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41487448	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772578	0.83[AMR][1000 genomes]
rs61772592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772618	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772620	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772622	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772623	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772625	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772626	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772627	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674131	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56971400-56986200	Genic enhancers	Placenta	Placenta
3	chr1:56972400-56990800	Strong transcription	HSMM	muscle
4	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
5	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
6	chr1:56977200-56987200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:56977200-56990600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:56977600-56983600	Strong transcription	NHLF	lung
9	chr1:56977800-56989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:56977800-56991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:56977800-56999200	Weak transcription	A549	lung
12	chr1:56978000-56987200	Weak transcription	Thymus	Thymus
13	chr1:56978000-56987600	Weak transcription	Dnd41	blood
14	chr1:56978000-56987800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:56978000-56989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:56978000-56991400	Weak transcription	Fetal Brain Male	brain
17	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:56979200-56984800	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:56979200-56984800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:56979200-56992600	Strong transcription	HepG2	liver
21	chr1:56979800-56986200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:56980000-56984200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:56980000-56984200	Enhancers	Spleen	Spleen
24	chr1:56980200-56983800	Genic enhancers	Fetal Intestine Large	intestine
25	chr1:56980400-56983600	Enhancers	Stomach Mucosa	stomach
26	chr1:56980400-56984200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:56980400-56984200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:56980400-56984200	Enhancers	Psoas Muscle	Psoas
29	chr1:56980400-56986200	Genic enhancers	NHDF-Ad	bronchial
30	chr1:56980600-56984000	Enhancers	Brain Hippocampus Middle	brain
31	chr1:56980600-56984200	Enhancers	Pancreas	Pancrea
32	chr1:56980600-56986200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:56980600-56991600	Genic enhancers	Left Ventricle	heart
34	chr1:56980800-56983800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:56981000-56984000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:56981000-56984200	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:56981000-56987200	Weak transcription	HSMMtube	muscle
38	chr1:56981200-56983600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:56981200-56984200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:56981400-56984200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:56981400-56984200	Genic enhancers	Adipose Nuclei	Adipose
42	chr1:56981400-56984800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:56981400-56985400	Genic enhancers	H1 Cell Line	embryonic stem cell
44	chr1:56981400-56986200	Strong transcription	Ovary	ovary
45	chr1:56981600-56983800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:56981600-56984200	Enhancers	Right Ventricle	heart
47	chr1:56981800-56983600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:56981800-56983800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:56981800-56984000	Enhancers	HMEC	breast
50	chr1:56981800-56985800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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