Variant report

Variant	rs73854768
Chromosome Location	chr3:119758525-119758526
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	KAP1	chr3:119758117-119758932	K562	blood:	n/a	n/a
2	CBX3	chr3:119758352-119758959	HCT-116	colon:	n/a	n/a
3	KAP1	chr3:119758355-119759353	HEK293	kidney:	n/a	n/a
4	CBX3	chr3:119758473-119758813	K562	blood:	n/a	n/a
5	USF1	chr3:119758432-119758831	HCT-116	colon:	n/a	n/a
6	ZNF143	chr3:119758519-119758828	GM12878	blood:	n/a	n/a
7	CBX3	chr3:119758414-119758873	K562	blood:	n/a	n/a
8	TCF12	chr3:119758330-119758944	A549	lung:	n/a	n/a
9	SETDB1	chr3:119758083-119759298	U2OS	brain:	n/a	n/a
10	ZNF143	chr3:119758525-119758818	K562	blood:	n/a	n/a
11	SETDB1	chr3:119758507-119759010	K562	blood:	n/a	n/a
12	KAP1	chr3:119758523-119758853	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119758303..119760523-chr3:119813063..119815758,2	K562	blood:

Variant related genes	Relation type
ENSG00000241546	TF binding region
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55739402	0.83[AFR][1000 genomes]
rs55849075	1.00[AFR][1000 genomes]
rs56181436	1.00[AFR][1000 genomes]
rs56897578	1.00[AFR][1000 genomes]
rs57028282	0.92[AFR][1000 genomes]
rs59890455	0.83[AFR][1000 genomes]
rs61091679	0.92[AFR][1000 genomes]
rs73854723	0.85[AFR][1000 genomes]
rs73854725	0.92[AFR][1000 genomes]
rs73854727	0.85[AFR][1000 genomes]
rs73854732	0.83[AFR][1000 genomes]
rs73854734	0.92[AFR][1000 genomes]
rs73854742	0.92[AFR][1000 genomes]
rs73854743	0.92[AFR][1000 genomes]
rs73854748	0.92[AFR][1000 genomes]
rs73854754	1.00[AFR][1000 genomes]
rs73854756	0.92[AFR][1000 genomes]
rs73854758	0.92[AFR][1000 genomes]
rs73854759	1.00[AFR][1000 genomes]
rs73854760	1.00[AFR][1000 genomes]
rs73854763	0.88[AFR][1000 genomes]
rs73854771	1.00[AFR][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	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119751800-119766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:119757000-119760000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr3:119757000-119760800	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr3:119757000-119765000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr3:119757200-119758800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
6	chr3:119757200-119760800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:119757200-119761200	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr3:119757200-119763200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr3:119757200-119765800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:119757400-119758600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:119757400-119760400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr3:119757400-119762400	Weak transcription	Pancreas	Pancrea
13	chr3:119757600-119758600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:119757800-119759200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:119757800-119759600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:119757800-119760000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr3:119757800-119760400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:119757800-119760800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:119757800-119769800	ZNF genes & repeats	Dnd41	blood
20	chr3:119758000-119758800	ZNF genes & repeats	HSMM	muscle
21	chr3:119758000-119759000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr3:119758000-119759600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr3:119758000-119759800	ZNF genes & repeats	Fetal Lung	lung
24	chr3:119758000-119760000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
25	chr3:119758000-119760000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
26	chr3:119758000-119760000	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr3:119758000-119760200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:119758000-119760200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:119758000-119760200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr3:119758000-119760200	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr3:119758000-119760200	ZNF genes & repeats	HMEC	breast
32	chr3:119758000-119760200	ZNF genes & repeats	NHEK	skin
33	chr3:119758000-119761400	ZNF genes & repeats	GM12878-XiMat	blood
34	chr3:119758000-119763400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr3:119758200-119758800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:119758200-119759200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr3:119758200-119759400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr3:119758200-119760000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:119758200-119760000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:119758200-119760000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:119758200-119760000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr3:119758200-119760200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:119758200-119760800	ZNF genes & repeats	A549	lung
44	chr3:119758400-119758600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:119758400-119759000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr3:119758400-119759200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr3:119758400-119759400	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr3:119758400-119759400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
49	chr3:119758400-119760000	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr3:119758400-119760200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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