Variant report

Variant	rs60325644
Chromosome Location	chr3:119810582-119810583
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	MAFK	chr3:119810537-119810780	HepG2	liver:	n/a	chr3:119810580-119810600 chr3:119810582-119810598
2	MAFK	chr3:119810502-119810702	HepG2	liver:	n/a	chr3:119810580-119810600 chr3:119810582-119810598
3	RFX5	chr3:119810327-119815428	SK-N-SH	brain:	n/a	chr3:119815376-119815385 chr3:119814006-119814015 chr3:119813079-119813094 chr3:119813666-119813674 chr3:119813487-119813496 chr3:119813036-119813052 chr3:119813676-119813685 chr3:119813933-119813942
4	MAZ	chr3:119810578-119810738	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119755863..119757873-chr3:119808761..119811166,2	K562	blood:
2	chr3:119717186..119719857-chr3:119810036..119812260,3	K562	blood:
3	chr3:119594389..119596043-chr3:119808975..119811664,2	K562	blood:

Variant related genes	Relation type
ENSG00000242622	TF binding region
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1037974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13322562	1.00[ASN][1000 genomes]
rs1579032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17246730	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17246737	1.00[ASN][1000 genomes]
rs1903764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28821007	1.00[ASN][1000 genomes]
rs34002644	1.00[ASN][1000 genomes]
rs4491944	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57027844	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57132942	1.00[ASN][1000 genomes]
rs58299321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58371446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58991487	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59368677	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59703574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60049973	1.00[ASN][1000 genomes]
rs60993278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61188334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61511292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61566983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6796550	1.00[ASN][1000 genomes]
rs72548703	0.81[AFR][1000 genomes]
rs922337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812149	1.00[ASN][1000 genomes]
rs9834346	1.00[ASN][1000 genomes]
rs9843795	1.00[ASN][1000 genomes]
rs9865193	1.00[ASN][1000 genomes]
rs9867915	1.00[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv3964	chr3:119786623-119831698	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119764600-119812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:119799200-119810600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:119804600-119812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:119804600-119812000	Weak transcription	Pancreas	Pancrea
5	chr3:119805600-119810600	Weak transcription	Stomach Mucosa	stomach
6	chr3:119805600-119812000	Weak transcription	Gastric	stomach
7	chr3:119805800-119811400	Weak transcription	Esophagus	oesophagus
8	chr3:119808000-119814800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:119808000-119816400	Active TSS	Fetal Brain Female	brain
10	chr3:119808200-119810600	Weak transcription	Small Intestine	intestine
11	chr3:119808200-119814800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:119808200-119815000	Active TSS	HMEC	breast
13	chr3:119808400-119812800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:119808400-119815600	Active TSS	GM12878-XiMat	blood
15	chr3:119808600-119814800	Active TSS	NHEK	skin
16	chr3:119808800-119815000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:119808800-119815600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:119809000-119811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:119809000-119812800	Active TSS	Right Atrium	heart
20	chr3:119809000-119815000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:119809000-119816200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:119809200-119810800	Active TSS	HepG2	liver
23	chr3:119809200-119811000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr3:119809200-119811200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:119809200-119811400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:119809200-119811400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:119809200-119812000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr3:119809200-119812200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:119809200-119812600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr3:119809200-119814800	Active TSS	Brain Angular Gyrus	brain
31	chr3:119809200-119814800	Active TSS	NH-A	brain
32	chr3:119809200-119815000	Active TSS	HSMMtube	muscle
33	chr3:119809200-119815400	Active TSS	Psoas Muscle	Psoas
34	chr3:119809200-119815400	Active TSS	Right Ventricle	heart
35	chr3:119809200-119815600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:119809200-119815600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr3:119809200-119815800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:119809200-119816000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:119809200-119816200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:119809400-119811200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr3:119809400-119812000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:119809400-119812200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr3:119809400-119812600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr3:119809400-119814800	Active TSS	Stomach Smooth Muscle	stomach
45	chr3:119809400-119815000	Active TSS	Fetal Thymus	thymus
46	chr3:119809400-119815000	Active TSS	Ovary	ovary
47	chr3:119809400-119815200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:119809400-119815400	Active TSS	Aorta	Aorta
49	chr3:119809400-119815600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr3:119809400-119815800	Active TSS	HSMM	muscle

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