Variant report

Variant	rs73148289
Chromosome Location	chr3:23849422-23849423
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	MXI1	chr3:23848025-23849455	IMR90	lung:	n/a	n/a
2	CHD1	chr3:23848444-23849462	GM12878	blood:	n/a	n/a
3	NFYA	chr3:23849414-23849450	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr3:23848821-23850509	K562	blood:	n/a	n/a
5	MXI1	chr3:23846611-23849467	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
2	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
3	chr1:166868912..166869506-chr3:23849255..23849755,2	MCF-7	breast:

Variant related genes	Relation type
UBE2E1-AS1	TF binding region
UBE2E1	TF binding region
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs35663853	1.00[EUR][1000 genomes]
rs55867849	1.00[EUR][1000 genomes]
rs56283624	1.00[EUR][1000 genomes]
rs60283861	1.00[EUR][1000 genomes]
rs60740455	1.00[EUR][1000 genomes]
rs61652123	1.00[EUR][1000 genomes]
rs73148287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73150213	1.00[EUR][1000 genomes]
rs73150216	1.00[EUR][1000 genomes]
rs73150220	1.00[EUR][1000 genomes]
rs73150243	1.00[EUR][1000 genomes]
rs73150260	1.00[EUR][1000 genomes]
rs7634106	1.00[EUR][1000 genomes]
rs9883672	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3378886	chr3:23846373-23849821	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23847000-23849600	Active TSS	Thymus	Thymus
2	chr3:23847000-23850000	Active TSS	Right Atrium	heart
3	chr3:23847200-23849600	Active TSS	GM12878-XiMat	blood
4	chr3:23848400-23849600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:23848400-23850400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:23848400-23850400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:23848400-23852200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:23848600-23849600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr3:23848600-23850000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr3:23848600-23850200	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr3:23848600-23851800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr3:23848800-23849800	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr3:23848800-23850000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:23848800-23850400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr3:23848800-23850400	Flanking Active TSS	K562	blood
16	chr3:23848800-23851600	Weak transcription	Spleen	Spleen
17	chr3:23848800-23851800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:23849000-23849600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
19	chr3:23849000-23849600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:23849000-23849600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr3:23849000-23849800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:23849000-23849800	Flanking Active TSS	A549	lung
23	chr3:23849000-23849800	Flanking Active TSS	NHLF	lung
24	chr3:23849000-23850000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:23849000-23850000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:23849000-23850000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr3:23849000-23850400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:23849000-23850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:23849000-23851200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
30	chr3:23849000-23851200	Enhancers	Small Intestine	intestine
31	chr3:23849000-23851600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:23849000-23851600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:23849000-23851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:23849000-23851800	Weak transcription	Esophagus	oesophagus
35	chr3:23849000-23851800	Weak transcription	Gastric	stomach
36	chr3:23849000-23851800	Weak transcription	Lung	lung
37	chr3:23849000-23851800	Weak transcription	Pancreas	Pancrea
38	chr3:23849000-23852200	Flanking Active TSS	NHEK	skin
39	chr3:23849200-23849600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:23849200-23849600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
41	chr3:23849200-23849600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr3:23849200-23849600	Active TSS	Fetal Brain Male	brain
43	chr3:23849200-23849600	Transcr. at gene 5' and 3'	Fetal Lung	lung
44	chr3:23849200-23849600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:23849200-23849600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr3:23849200-23849800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
47	chr3:23849200-23849800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:23849200-23849800	Enhancers	Hela-S3	cervix
49	chr3:23849200-23850000	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:23849200-23850000	Weak transcription	Right Ventricle	heart

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