Variant report

Variant	rs60668380
Chromosome Location	chr3:160102647-160102648
allele	A/T
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	ZNF263	chr3:160102367-160102825	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159828363..159831351-chr3:160101448..160103052,2	K562	blood:
2	chr3:160102108..160105974-chr3:160114282..160119740,5	MCF-7	breast:

Variant related genes	Relation type
IFT80	TF binding region
ENSG00000068885	Chromatin interaction
ENSG00000113810	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73019761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021768	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023851	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023853	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023868	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023874	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	esv1801474	chr3:160012843-160153305	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	206 gene(s)	inside rSNPs	diseases
7	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
8	esv1795255	chr3:160089896-160153305	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	205 gene(s)	inside rSNPs	diseases
9	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160055200-160103400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:160061400-160109600	Weak transcription	Fetal Heart	heart
3	chr3:160069000-160115200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:160073800-160108400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:160076200-160116200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:160083400-160113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:160083800-160108200	Weak transcription	GM12878-XiMat	blood
8	chr3:160083800-160116000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:160084000-160104000	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:160088800-160108600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:160088800-160108600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:160088800-160116200	Weak transcription	Primary B cells from cord blood	blood
13	chr3:160088800-160116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:160089000-160104000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:160091600-160105800	Weak transcription	Ovary	ovary
16	chr3:160092000-160113200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:160092200-160103200	Weak transcription	K562	blood
18	chr3:160092200-160116000	Weak transcription	Fetal Stomach	stomach
19	chr3:160092200-160116200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:160092200-160116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:160093000-160102800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:160093000-160113000	Weak transcription	NHLF	lung
23	chr3:160093200-160113200	Weak transcription	Brain Germinal Matrix	brain
24	chr3:160093600-160116000	Weak transcription	Fetal Kidney	kidney
25	chr3:160094600-160116000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:160094800-160104800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr3:160094800-160113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:160094800-160113200	Weak transcription	HSMM	muscle
29	chr3:160094800-160115800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:160094800-160116000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:160094800-160116000	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:160094800-160116600	Weak transcription	Left Ventricle	heart
33	chr3:160095000-160103800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:160095000-160115800	Weak transcription	Fetal Intestine Large	intestine
35	chr3:160095000-160116000	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:160095200-160108400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr3:160095200-160115000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:160095400-160103800	Weak transcription	Fetal Lung	lung
39	chr3:160095400-160108600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:160095400-160113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:160095400-160116000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:160097000-160113200	Weak transcription	A549	lung
43	chr3:160098200-160113400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:160098400-160107200	Weak transcription	HMEC	breast
45	chr3:160098400-160113400	Weak transcription	Dnd41	blood
46	chr3:160098400-160115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:160098400-160116200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:160098400-160116400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:160098800-160115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:160098800-160115800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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