Variant report

Variant	rs72694306
Chromosome Location	chr14:24666628-24666629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr14:24665319-24666689	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:24663324-24667470	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:24666331-24666631	K562	blood:	n/a	n/a
4	POLR2A	chr14:24666208-24666801	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr14:24666332-24666629	K562	blood:	n/a	n/a
6	ZNF384	chr14:24666341-24666758	K562	blood:	n/a	n/a
7	POLR2A	chr14:24666303-24667036	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24608474..24613065-chr14:24662221..24666729,4	K562	blood:
2	chr14:24614938..24617925-chr14:24664131..24667025,3	K562	blood:
3	chr14:24664420..24666699-chr14:24881559..24884040,2	K562	blood:
4	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:
5	chr14:24644381..24646696-chr14:24665160..24667819,2	K562	blood:
6	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:

No data

Variant related genes	Relation type
TM9SF1	TF binding region
ENSG00000254505	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000157379	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1242023	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588742	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588782	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17184526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234096	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55949103	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72694311	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72694312	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24664000-24667000	Active TSS	Pancreas	Pancrea
2	chr14:24664400-24666800	Active TSS	K562	blood
3	chr14:24665600-24667000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:24665600-24668000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:24665600-24670400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:24665600-24674800	Weak transcription	Esophagus	oesophagus
7	chr14:24665800-24666800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:24665800-24666800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:24665800-24667000	Enhancers	Fetal Muscle Trunk	muscle
10	chr14:24665800-24670600	Weak transcription	Spleen	Spleen
11	chr14:24665800-24670800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24665800-24675000	Weak transcription	Aorta	Aorta
13	chr14:24665800-24681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:24666000-24666800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:24666000-24666800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:24666000-24666800	Enhancers	Primary hematopoietic stem cells	blood
17	chr14:24666000-24666800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:24666000-24666800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr14:24666000-24666800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:24666000-24666800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr14:24666000-24666800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:24666000-24666800	Weak transcription	Fetal Stomach	stomach
23	chr14:24666000-24666800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:24666000-24667000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:24666000-24667000	Enhancers	Fetal Muscle Leg	muscle
26	chr14:24666000-24667000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:24666000-24667000	Enhancers	Osteobl	bone
28	chr14:24666000-24667200	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:24666000-24667200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr14:24666000-24667200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr14:24666000-24667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:24666000-24667400	Enhancers	Primary B cells from cord blood	blood
33	chr14:24666000-24667800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:24666000-24667800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:24666000-24667800	Weak transcription	A549	lung
36	chr14:24666000-24668000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:24666000-24668000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:24666000-24668600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:24666000-24670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:24666000-24670400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:24666000-24670600	Weak transcription	Fetal Kidney	kidney
42	chr14:24666000-24670800	Weak transcription	Brain Substantia Nigra	brain
43	chr14:24666000-24670800	Weak transcription	HMEC	breast
44	chr14:24666000-24672200	Weak transcription	NHLF	lung
45	chr14:24666000-24674200	Weak transcription	Gastric	stomach
46	chr14:24666000-24674800	Weak transcription	Ovary	ovary
47	chr14:24666000-24675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:24666000-24675800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:24666200-24666800	Enhancers	Fetal Thymus	thymus
50	chr14:24666200-24667000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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