Variant report

Variant	rs73157739
Chromosome Location	chr4:57297689-57297690
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	IRF1	chr4:57297250-57297965	K562	blood:	n/a	n/a
2	GATA3	chr4:57297668-57297958	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57283427..57285263-chr4:57295850..57297831,2	MCF-7	breast:
2	chr4:57278722..57280888-chr4:57296778..57299271,2	MCF-7	breast:
3	chr4:57297540..57304787-chr4:57330316..57336934,28	K562	blood:

Variant related genes	Relation type
PAICS	TF binding region
ENSG00000270109	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17086746	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17086755	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17086769	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17086776	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17086786	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17086844	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17086879	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17086893	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17086906	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17086908	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17086924	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292984	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28649329	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34228795	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34543011	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3796543	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4074775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41476944	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57439970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58337902	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61580407	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61732641	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73155895	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73155901	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73157733	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73157754	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73157769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73157772	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73157774	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73157784	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73159992	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73162272	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73167378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73167396	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57264800-57301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:57265000-57301000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:57272800-57299800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:57272800-57299800	Weak transcription	Fetal Thymus	thymus
5	chr4:57272800-57300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:57277000-57299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:57277000-57300000	Weak transcription	HSMM	muscle
8	chr4:57277800-57298000	Weak transcription	A549	lung
9	chr4:57278000-57299200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:57278200-57300200	Weak transcription	Fetal Kidney	kidney
11	chr4:57278200-57300200	Weak transcription	NHDF-Ad	bronchial
12	chr4:57280600-57297800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:57280800-57299400	Weak transcription	Fetal Lung	lung
14	chr4:57281000-57299200	Weak transcription	HMEC	breast
15	chr4:57284800-57300400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:57287800-57299200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:57288000-57297800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:57288000-57299200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:57289600-57299800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:57292000-57297800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:57292000-57299200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:57292200-57298000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:57292200-57299200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:57292200-57299200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:57292200-57299200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:57292200-57299800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:57292400-57298000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:57293400-57298800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:57293400-57299200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:57294000-57299200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:57295000-57299200	Enhancers	HepG2	liver
32	chr4:57295000-57305000	Active TSS	GM12878-XiMat	blood
33	chr4:57295400-57300000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:57296400-57297800	Enhancers	Dnd41	blood
35	chr4:57296400-57297800	Genic enhancers	K562	blood
36	chr4:57296400-57299400	Weak transcription	HUVEC	blood vessel
37	chr4:57296600-57297800	Enhancers	Hela-S3	cervix
38	chr4:57296600-57298600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:57296600-57300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:57297200-57300000	Weak transcription	Fetal Brain Male	brain
41	chr4:57297400-57298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:57297400-57298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:57297600-57298000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:57297600-57298200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:57297600-57298200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:57297600-57298400	Enhancers	Brain Germinal Matrix	brain

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